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11. Diagnostic utility of genetic testing in restrictive cardiomyopathy a single refferal centre experience

Author

Szczygiel, J A, primary, Michalek, P, additional, Franaszczyk, M, additional, Truszkowska, G, additional, Ziarkiewicz, M, additional, Gawor, M, additional, Legatowicz-Koprowska, M, additional, Walczak, E, additional, Mazurkiewicz, L, additional, Stawinski, P, additional, Jedrzejczak, W W, additional, Lutynska, A, additional, Ploski, R, additional, Bilinska, Z T, additional, and Grzybowski, J, additional

Published
2021
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12. The emerging role of reassessment of genetic testing results in the diagnosis of the unexplained sudden cardiac arrest's causes

Author

Stepien-Wojno, M, primary, Poninska, J, additional, Foss-Nieradko, B, additional, Rydzanicz, M, additional, Michalak, E, additional, Bilinska, M, additional, Truszkowska, G, additional, Chmielewski, P, additional, Kowalik, I, additional, Baranowski, R, additional, Lutynska, A, additional, Biernacka, E K, additional, Stepinska, J, additional, Ploski, R, additional, and Bilinska, Z T, additional

Published
2021
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14. TRPV6 functionally defective variants are associated with chronic pancreatitis in non-alcoholic early-onset polish and German patients

Author

Rygiel, A.M., primary, Oracz, G., additional, Zarod, M., additional, Ewers, M., additional, Laumen, H., additional, Gambin, T., additional, Grabowska, I., additional, Drozak, A., additional, Kwiatkowski, S., additional, Wertheim-Tysarowska, K., additional, Kolodziejczyk, E., additional, Kosinska, J., additional, Gluszek, S., additional, Koziel, D., additional, Ploski, R., additional, Rosendahl, J., additional, Witt, H., additional, and Drozak, J., additional

Published
2021
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15. Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

Author

Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Khan, M.I., Cremers, F.P.M., Ploski, R., and Chrzanowska, K.H.

Subjects
All institutes and research themes of the Radboud University Medical Center, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Abstract

Contains fulltext : 236914.pdf (Publisher’s version ) (Closed access)

Published
2021

16. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Author

Riedhammer, Korbinian M., Stockler, S., Ploski, R., Wenzel, M., Adis-Dutschmann, Burkhard, Ahting, U., Karnebeek, C.D. van, Krageloh-Mann, Ingeborg, Vill, Katharina, Riedhammer, Korbinian M., Stockler, S., Ploski, R., Wenzel, M., Adis-Dutschmann, Burkhard, Ahting, U., Karnebeek, C.D. van, Krageloh-Mann, Ingeborg, and Vill, Katharina

Abstract

Contains fulltext : 233946.pdf (Publisher’s version ) (Closed access)

Published
2021

18. Correction to ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Author

Carapito, R. (Raphaël), Ivanova, E. (Ekaterina), Morlon, A. (Aurore), Meng, L. (Linyan), Molitor, A. (Anne), Erdmann, E. (Eva), Kieffer, B. (Bruno), Pichot, A. (Angélique), Naegely, L. (Lydie), Kolmer, A. (Aline), Paul, N. (Nicodème), Hanauer, A. (Antoine), Tran Mau-Them, F. (Frédéric), Jean-Marçais, N. (Nolwenn), Hiatt, S. (Susan), Cooper, G. (Gregory), Tvrdik, T. (Tatiana), Muir, A. (Alison), Dimartino, C. (Clémantine), Chopra, M. (Maya), Amiel, J. (Jeanne), Gordon, C. (Christopher), Dutreux, F. (Fabien), Garde, A. (Aurore), Thauvin-Robinet, C. (Christel), Wang, X. (Xia), Leduc, M. (Magalie), Phillips, M. (Meredith), Crawford, H. (Heather), Kukolich, M. (Mary), Hunt, D. (David), Harrison, V. (Victoria), Kharbanda, M. (Mira), Smigiel, R. (Robert), Gold, N. (Nina), Hung, C. (Christina), Viskochil, D. (David), Dugan, S. (Sarah), Bayrak-Toydemir, P. (Pinar), Joly-Helas, G. (Géraldine), Guerrot, A. (Anne-Marie), Schluth-Bolard, C. (Caroline), Rio, M. (Marlène), Wentzensen, Ingrid M., McWalter, K. (Kirsty), Schnur, R. (Rhonda), Lewis, A. (Andrea), Lalani, S. (Seema), Mensah-Bonsu, N. (Noël), Céraline, J. (Jocelyn), Sun, Z. (Zijie), Ploski, R. (Rafal), Bacino, C. (Carlos), Mefford, H. (Heather), Faivre, L. (Laurence), Bodamer, O. (Olaf), Chelly, J. (Jamel), Isidor, B. (Bertrand), and Bahram, S. (Seiamak)

Subjects
Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC], Sciences du Vivant [q-bio]/Biotechnologies
Published
2020

19. Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers

Author

Ralf, A. (Arwin), Lubach, D., Kousouri, N., Winkler, C., Schulz, I., Roewer, L. (Lutz), Purps, J, Lessig, R. (Rüdiger), Krajewski, P, Ploski, R. (Rafal), Dobosz, T. (Tadeusz), Henke, J. (Jürgen), Larmuseau, M.H.D. (Maarten), Kayser, M.H. (Manfred), Ralf, A. (Arwin), Lubach, D., Kousouri, N., Winkler, C., Schulz, I., Roewer, L. (Lutz), Purps, J, Lessig, R. (Rüdiger), Krajewski, P, Ploski, R. (Rafal), Dobosz, T. (Tadeusz), Henke, J. (Jürgen), Larmuseau, M.H.D. (Maarten), and Kayser, M.H. (Manfred)

Abstract

Short tandem repeat polymorphisms on the male‐specific part of the human Y‐chromosome (Y‐STRs) are valuable tools in many areas of human genetics. Although their paternal inheritance and moderate mutation rate (~10−3 mutations per marker per meiosis) allow detecting paternal relationships, they typically fail to separate male relatives. Previously, we identified 13 Y‐STR markers with untypically high mutation rates (>10−2 ), termed rapidly mutating (RM) Y‐STRs, and showed that they improved male relative differentiation over standard Y‐STRs. By applying a newly developed in silico search approach to the Y‐chromosome reference sequence, we identified 27 novel RM Y‐STR candidates. Genotyping them in 1,616 DNA‐confirmed father–son pairs for mutation rate estimation empirically highlighted 12 novel RM Y‐STRs. Their capacity to differentiate males related by 1, 2, and 3 meioses was 27%, 47%, and 61%, respectively, while for all 25 currently known RM Y‐STRs, it was 44%, 69%, and 83%. Of the 647 Y‐STR mutations ob

Published
2020
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20. Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers

Author

Ralf, Arwin, Lubach, DN (Delano), Kousouri, Nefeli, Winkler, C, Schulz, I, Roewer, L, Purps, J, Lessig, R, Krajewski, P, Ploski, R, Dobosz, T, Henke, L, Henke, J, Larmuseau, MHD, Kayser, Manfred, Ralf, Arwin, Lubach, DN (Delano), Kousouri, Nefeli, Winkler, C, Schulz, I, Roewer, L, Purps, J, Lessig, R, Krajewski, P, Ploski, R, Dobosz, T, Henke, L, Henke, J, Larmuseau, MHD, and Kayser, Manfred

Published
2020

21. INDEPENDENT ASSOCIATION OF FTO rs9939609 POLYMORPHISM WITH OVERWEIGHT AND OBESITY IN POLISH ADULTS. RESULTS FROM THE REPRESENTATIVE POPULATION-BASED WOBASZ STUDY.

Author

PIWONSKA, A. M., CICHA-MIKOLAJCZYK, A., SOBCZYK-KOPCIOL, A., PIWONSKI, J., DRYGAS, W., KWASNIEWSKA, M., PAJAK, A., ZDROJEWSKI, T., TYKARSKI, A., KOZAKIEWICZ, K., and PLOSKI, R.

Subjects
POLISH people, OBESITY, DEMOGRAPHIC surveys
Abstract

Genetic factors play an important role in the origin of obesity. We investigated the association between the FTO rs9939609 genotype and overweight and obesity, along with additional anthropometric variables in the representative sample of adult Polish population. We genotyped a random sample of 3369 adult individuals examined in a crosssectional population survey (WOBASZ 2003-2005). More than 40% of men and women had at least one A allele. The AA genotype was found in approximately one fifth of both men and women. The frequency of the AA genotype increased with higher BMI in both sexes and was associated with higher anthropometric obesity indicators in both men and women. The FTO rs9939609 AA genotype was significantly related to abnormal BMI [OR=1.55 (1.14-2.11)] and overweight [OR=1.55 (1.11-2.16)] or obesity [OR=1.56 (1.04-235)] in men regardless of age, tobacco smoking, physical activity, diet and diabetes, while in women it was related to abnormal BMI [OR=1.45 (1.05-2.01)] and overweight [OR=1.59 (1.11-2.29)] after adjustment in addition for menopause. The frequency of the A allele in the Polish population was the same as in other European countries. About one fifth of both men and women have the FTO rs9939609 AA variant. A significant relationship was found between the FTO genotype and anthropometric obesity indicators. The AA genotype was significantly associated with abnormal BMI and overweight in both sexes, but the relation to the obesity phenotype was observed only in men. [ABSTRACT FROM AUTHOR]

Published
2022
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22. TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients.

Author

Oracz, G., primary, Zarod, M., additional, Gambin, T., additional, Drozak, A., additional, Kwiatkowski, S., additional, Wertheim-Tysarowska, K., additional, Kolodziejczyk, E., additional, Sawicka, J., additional, Jackiewicz, M., additional, Kosinska, J., additional, Koziel, D., additional, Gluszek, S., additional, Ploski, R., additional, Bal, J., additional, Drozak, J., additional, and Rygiel, A., additional

Published
2020
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24. Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events A GENIUS-CHD Study of Individual Participant Data

Author

Patel, R.S., Schmidt, A.F., Tragante, V., McCubrey, R.O., Holmes, M.V., Howe, L.J., Direk, K., Akerblom, A., Leander, K., Virani, S.S., Kaminski, K.A., Muehlschlegel, J.D., Dube, M.P., Allayee, H., Almgren, P., Alver, M., Baranova, E.V., Behlouli, H., Boeckx, B., Braund, P.S., Breitling, L.P., Delgado, G., Duarte, N.E., Dufresne, L., Eriksson, N., Foco, L., Gijsberts, C.M., Gong, Y., Hartiala, J., Heydarpour, M., Hubacek, J.A., Kleber, M., Kofink, D., Kuukasjarvi, P., Lee, V.V., Leiherer, A., Lenzini, P.A., Levin, D., Lyytikainen, L.P., Martinelli, N., Mons, U., Nelson, C.P., Nikus, K., Pilbrow, A.P., Ploski, R., Sun, Y.V., Tanck, M.W.T., Tang, W.H.W., Trompet, S., Laan, S.W. van der, Setten, J. van, Vilmundarson, R.O., Anselmi, C.V., Vlachopoulou, E., Boerwinkle, E., Briguori, C., Carlquist, J.F., Carruthers, K.F., Casu, G., Deanfield, J., Deloukas, P., Dudbridge, F., Fitzpatrick, N., Gigante, B., James, S., Lokki, M.L., Lotufo, P.A., Marziliano, N., Mordi, I.R., Muhlestein, J.B., Cheh, C.N., Pitha, J., Saely, C.H., Samman-Tahhan, A., Sandesara, P.B., Teren, A., Timmis, A., Werf, F. van de, Wauters, E., Wilde, A.A.M., Ford, I., Stott, D.J., Algra, A., Andreassi, M.G., Ardissino, D., Arsenault, B.J., Ballantyne, C.M., Bergmeijer, T.O., Bezzina, C.R., Body, S.C., Bogaty, P., Borst, G.J. de, Brenner, H., Burkhardt, R., Carpeggiani, C., Condorelli, G., Cooper-DeHoff, R.M., Cresci, S., Faire, U. de, Doughty, R.N., Drexel, H., Engert, J.C., Fox, K.A.A., Girelli, D., Hagstrom, E., Hazen, S.L., Held, C., Hemingway, H., Hoefer, I.E., Hovingh, G.K., Johnson, J.A., Jong, P.A. de, Jukema, J.W., Kaczor, M.P., Kahonen, M., Kettner, J., Kiliszek, M., Klungel, O.H., Lagerqvist, B., Lambrechts, D., Laurikka, J.O., Lehtimaki, T., Lindholm, D., Mahmoodi, B.K., Maitland-van der Zee, A.H., McPherson, R., Melander, O., Metspalu, A., Pepinski, W., Olivieri, O., Opolski, G., Palmer, C.N., Pasterkamp, G., Pepine, C.J., Pereira, A.C., Note, L., Quyyumi, A.A., Richards, A.M., Sanak, M., Scholz, M., Siegbahn, A., Sinisalo, J., Smith, J.G., Spertus, J.A., Stewart, A.F.R., Szczeklik, W., Szpakowicz, A., Berg, J.M. ten, Thanassoulis, G., Thieiy, J., Graaf, Y. van der, Visseren, F.L.J., Waltenberger, J., Harst, P. van der, Tardif, J.C., Sattar, N., Lang, C.C., Pare, G., Brophy, J.M., Anderson, J.L., Marz, W., Wallentin, L., Cameron, V.A., Horne, B.D., Samani, N.J., Hingorani, A.D., Asselbergs, F.W., and CARDIo-GRAMPlusC4D Consortium

Subjects
myocardial infarction, risk factor, cardiovascular diseases, chromosome, genetic, variation, secondary prevention
Abstract

BACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk.METHODS: A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD.RESULTS: Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUSCHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction < 0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09).CONCLUSIONS: In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development.

Published
2019

25. Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

Author

Patel, RS, Schmidt, AF, Tragante, V, McCubrey, RO, Holmes, MV, Howe, LJ, Direk, K, Åkerblom, A, Leander, K, Virani, SS, Kaminski, KA, Muehlschlegel, JD, Dubé, M-P, Allayee, H, Almgren, P, Alver, M, Baranova, EV, Behlouli, H, Boeckx, B, Braund, PS, Breitling, LP, Delgado, G, Duarte, NE, Dufresne, L, Eriksson, N, Foco, L, Gijsberts, CM, Gong, Y, Hartiala, J, Heydarpour, M, Hubacek, JA, Kleber, M, Kofink, D, Kuukasjärvi, P, Lee, V-V, Leiherer, A, Lenzini, PA, Levin, D, Lyytikäinen, L-P, Martinelli, N, Mons, U, Nelson, CP, Nikus, K, Pilbrow, AP, Ploski, R, Sun, YV, Tanck, MWT, Tang, WHW, Trompet, S, Van Der Laan, SW, Van Setten, J, Vilmundarson, RO, Anselmi, C, Vlachopoulou, E, Boerwinkle, E, Briguori, C, Carlquist, JF, Carruthers, KF, Casu, G, Deanfield, J, Deloukas, P, Dudbridge, F, Fitzpatrick, N, Gigante, B, James, S, Lokki, M-L, Lotufo, PA, Marziliano, N, Mordi, IR, Muhlestein, JB, Newton-Cheh, C, Pitha, J, Saely, CH, Samman-Tahhan, A, Sandesara, PB, Teren, A, Timmis, A, Van De Werf, F, Wauters, E, Wilde, AAM, Ford, I, Stott, DJ, Algra, A, Andreassi, MG, Ardissino, D, Arsenault, BJ, Ballantyne, CM, Bergmeijer, TO, Bezzina, CR, Body, SC, Bogaty, P, De Borst, GJ, Brenner, H, Burkhardt, R, Carpeggiani, C, Condorelli, G, Cooper-Dehoff, RM, Cresci, S, De Faire, U, Doughty, RN, Drexel, H, Engert, JC, Fox, KAA, Girelli, D, Hagström, E, Hazen, SL, Held, C, Hemingway, H, Hoefer, IE, Hovingh, GK, Johnson, JA, De Jong, PA, Jukema, JW, Kaczor, MP, Kähönen, M, Kettner, J, Kiliszek, M, Klungel, OH, Lagerqvist, B, Lambrechts, D, Laurikka, JO, Lehtimäki, T, Lindholm, D, Mahmoodi, BK, Der Zee, AH, McPherson, R, Melander, O, Metspalu, A, Pepinski, W, Olivieri, O, Opolski, G, Palmer, CN, Pasterkamp, G, Pepine, CJ, Pereira, AC, Pilote, L, Quyyumi, AA, Richards, AM, Sanak, M, Scholz, M, Siegbahn, A, Sinisalo, J, Smith, JG, Spertus, JA, Stewart, AFR, Szczeklik, W, Szpakowicz, A, Berg, JM, Thanassoulis, G, Thiery, J, Van Der Graaf, Y, Visseren, FLJ, Waltenberger, J, Van Der Harst, P, Tardif, J-C, Sattar, N, Lang, CC, Paré, G, Brophy, JM, Anderson, JL, März, W, Wallentin, L, Cameron, VA, Horne, BD, Samani, NJ, Hingorani, AD, and Asselbergs, FW

Subjects
Male, Myocardial Infarction, genetic risk factor, Coronary Artery Disease, Middle Aged, Article, chromosome 9p21, Gene Frequency, Risk Factors, Case-Control Studies, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, cardiovascular diseases, Chromosomes, Human, Pair 9, secondary prevention
Abstract

Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk.A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD.Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUS-CHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09).In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development.

Published
2019

31. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

Author

Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Stawinski, P., Ciara, E., Khan, M.I., Henkes, A., Hoischen, A., Gilissen, C.F., Vorst, M. van de, Cremers, F.P.M., Ploski, R., Chrzanowska, K.H., Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Stawinski, P., Ciara, E., Khan, M.I., Henkes, A., Hoischen, A., Gilissen, C.F., Vorst, M. van de, Cremers, F.P.M., Ploski, R., and Chrzanowska, K.H.

Abstract

Contains fulltext : 215626.pdf (publisher's version ) (Open Access), Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). Since the knowledge of the genetic causes of inherited retinal diseases (IRDs) in Poland is still scarce, the purpose of this study was to identify pathogenic ABCA4 variants in a subgroup of Polish IRD patients. We recruited 67 families with IRDs as a part of a larger study. The patients were screened with next generation sequencing using a molecular inversion probes (MIPs)-based technique targeting 108 genes involved in the pathogenesis of IRDs. All identified mutations were validated and their familial segregation was tested using Sanger sequencing. In the case of the most frequent complex allele, consisting of two variants in exon 12 and 21, familial segregation was tested using restriction fragment length polymorphism (RFLP). The most prevalent variant, a complex change c.[1622T>C;3113C>T], p.[Leu541Pro;Ala1038Val], was found in this cohort in 54% of all solved ABCA4-associated disorder cases, which is the highest frequency reported thus far. Additionally, we identified nine families displaying a pseudo-dominant mode of inheritance, indicating a high frequency of pathogenic variants within this population.

Published
2019

32. Subsequent Event Risk in Individuals With Established Coronary Heart Disease

Author

Patel, R.S. (Riyaz), Tragante, V. (Vinicius), Schmidt, A.F. (Amand), McCubrey, R.O. (Raymond O.), Holmes, M.V. (Michael), Howe, L.J. (Laurence J.), Direk, K. (Kenan), Åkerblom, A. (Axel), Leander, K. (Karin), Virani, S.S. (Salim), Kaminski, K.A. (Karol A.), Muehlschlegel, J.D. (Jochen), Allayee, H. (Hooman), Almgren, P. (Peter), Alver, M. (Maris), Baranova, E.V. (Ekaterina V.), Behloui, H. (Hassan), Boeckx, B. (Bram), Braund, P.S. (Peter), Breitling, L.P. (Lutz), Delgado, G., Duarte, N.E. (Nubia E.), Dubé, G.P. (Gregory), Dufresne, L. (Line), Eriksson, N. (Niclas), Foco, L. (Luisa), Scholz, M. (Markus), Gijsberts, C.M. (Crystel M.), Glinge, C. (Charlotte), Gong, Y. (Yan), Hartiala, J. (Jaana), Heydarpour, M. (Mahyar), Hubacek, J.A. (Jaroslav A.), Kleber, M.E. (Marcus), Kofink, D. (Daniel), Kotti, S. (Salma), Kuukasjärvi, P. (Pekka), Lee, V.-V. (Vei-Vei), Leiherer, A. (Andreas), Lenzini, P.A. (Petra A.), Levin, D. (Daniel), Lyytikäinen, L.-P. (Leo-Pekka), Martinelli, N. (Nicola), Mons, U. (Ute), Nelson, C.P. (Christopher P.), Nikus, K. (Kjell), Pilbrow, A.P. (Anna P.), Ploski, R. (Rafal), Sun, Y.V. (Yan V.), Tanck, M.W.T. (Michael), Tang, W. (W.), Trompet, S. (Stella), van der Laan, S.W. (Sander W.), Setten, J. (Jessica) van, Vilmundarson, R.O. (Ragnar O.), Viviani Anselmi, C. (Chiara), Vlachopoulou, E. (Efthymia), Al Ali, L. (Lawien), Boerwinkle, E.A. (Eric), Briguori, C. (Carlo), Carlquist, J.F. (John), Carruthers, K.F. (Kathryn), Casu, G. (Gavino), Deanfield, J. (John), Deloukas, P. (Panos), Dudbridge, F. (Frank), Engstrøm, T. (Thomas), Fitzpatrick, N. (Natalie), Fox, K.M. (Kim), Gigante, B. (Bruna), James, S.K. (Stefan), Lokki, M.-L. (Marja-Liisa), Lotufo, P.A. (Paulo A.), Marziliano, N. (Nicola), Mordi, I.R. (Ify R.), Muhlestein, J.B. (Joseph), Newton-Cheh, C. (Christopher), Pitha, J. (Jan), Saely, C.H. (Christoph H.), Samman-Tahhan, A. (Ayman), Sandesara, P.B. (Pratik B.), Teren, A. (Andrej), Timmis, A. (Adam), Van de Werf, F. (Frans), Wilde, A.A.M. (Arthur), Ford, I. (Ian), Stott, D.J. (David. J.), Algra, A. (Ale), Andreassi, M.G. (Maria G.), Ardissino, D. (Diego), Arsenault, B.J. (Benoit J.), Ballantyne, C. (Christie), Bergmeijer, T.O. (Thomas O.), Bezzina, C.R. (Connie R.), Body, S.C. (Simon C.), Boersma, E.H. (Eric H.), Bogaty, P. (Peter), Bots, M.L. (Michiel), Brenner, H. (Hermann), Brugts, J.J. (Jasper), Burkhardt, R. (Ralph), Carpeggiani, C. (Clara), Condorelli, G. (Gianluigi), Cooper-Dehoff, R.M. (Rhonda), Cresci, S. (Sharon), Danchin, N. (Nicolas), Faire, U. (Ulf) de, Doughty, R.N. (Robert N.), Drexel, H. (Heinz), Engert, J.C. (James C.), Fox, K.A.A. (Keith), Girelli, D. (Domenico), Grobbee, D.E. (Diederick E.), Hagström, E. (Emil), Hazen, S.L. (Stanley), Held, C. (Claes), Hemingway, H., Hoefer, I.E. (Imo), Hovingh, G.K. (G Kees), Jabbari, R. (Reza), Johnson, J.A. (Jennifer ), Jukema, J.W. (Jan Wouter), Kaczor, M.P. (Marcin P.), Kähönen, M. (Mika), Kettner, J. (Jiri), Kiliszek, M. (Marek), Klungel, O.H. (Olaf), Lagerqvist, B. (Bo), Lambrechts, D. (Diether), Laurikka, J.O. (Jari O.), Lehtimäki, T. (Terho), Lindholm, D. (Daniel), Mahmoodi, B.K. (Bakhtawar K.), Maitland-van der Zee, A-H. (Anke-Hilse), McPherson, R. (Ruth), Melander, O. (Olle), Metspalu, A. (Andres), Niemcunowicz-Janica, A. (Anna), Olivieri, O. (Oliviero), Opolski, G. (Grzegorz), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Pepine, C.J. (Carl), Pereira, A. (A.), Pilote, L. (Louise), Erdmann, J. (Jeanette), Richards, A.M. (A Mark), Sanak, M. (Marek), Siegbahn, A. (Agneta), Simon, T. (Tabassome), Sinisalo, J. (Juha), Smith, J.G. (J Gustav), Schwartz, S.M. (Stephen), Stender, S. (Steen), Stewart, A.F. (Alexandre F.), Szczeklik, W. (Wojciech), Szpakowicz, A. (Anna), Tardif, J.-C. (Jean-Claude), Berg, J.M. (Jurrien) ten, Tfelt-Hansen, J. (Jacob), Thanassoulis, G. (George), Thiery, J.P. (Joachim), Torp-Pedersen, C. (Christian Tobias), Graaf, Y. (Yolanda) van der, Visseren, F.L.J. (Frank), Waltenberger, J. (Johannes), Weeke, P.E. (Peter E.), Harst, P. (Pim) van der, Lang, C.C. (Chim C.), Sattar, N. (Naveed), Cameron, V.A. (Vicky A.), Anderson, J.L. (Jeffrey), Brophy, J.M. (James M.), Pare, G. (Guillame), Horne, B.D. (Benjamin), Ye, S. (Shu), Wallentin, L. (Lars), Wauters, E. (Els), Samani, N.J. (Nilesh), Hingorani, A. (Aroon), Asselbergs, F.W. (Folkert), Patel, R.S. (Riyaz), Tragante, V. (Vinicius), Schmidt, A.F. (Amand), McCubrey, R.O. (Raymond O.), Holmes, M.V. (Michael), Howe, L.J. (Laurence J.), Direk, K. (Kenan), Åkerblom, A. (Axel), Leander, K. (Karin), Virani, S.S. (Salim), Kaminski, K.A. (Karol A.), Muehlschlegel, J.D. (Jochen), Allayee, H. (Hooman), Almgren, P. (Peter), Alver, M. (Maris), Baranova, E.V. (Ekaterina V.), Behloui, H. (Hassan), Boeckx, B. (Bram), Braund, P.S. (Peter), Breitling, L.P. (Lutz), Delgado, G., Duarte, N.E. (Nubia E.), Dubé, G.P. (Gregory), Dufresne, L. (Line), Eriksson, N. (Niclas), Foco, L. (Luisa), Scholz, M. (Markus), Gijsberts, C.M. (Crystel M.), Glinge, C. (Charlotte), Gong, Y. (Yan), Hartiala, J. (Jaana), Heydarpour, M. (Mahyar), Hubacek, J.A. (Jaroslav A.), Kleber, M.E. (Marcus), Kofink, D. (Daniel), Kotti, S. (Salma), Kuukasjärvi, P. (Pekka), Lee, V.-V. (Vei-Vei), Leiherer, A. (Andreas), Lenzini, P.A. (Petra A.), Levin, D. (Daniel), Lyytikäinen, L.-P. (Leo-Pekka), Martinelli, N. (Nicola), Mons, U. (Ute), Nelson, C.P. (Christopher P.), Nikus, K. (Kjell), Pilbrow, A.P. (Anna P.), Ploski, R. (Rafal), Sun, Y.V. (Yan V.), Tanck, M.W.T. (Michael), Tang, W. (W.), Trompet, S. (Stella), van der Laan, S.W. (Sander W.), Setten, J. (Jessica) van, Vilmundarson, R.O. (Ragnar O.), Viviani Anselmi, C. (Chiara), Vlachopoulou, E. (Efthymia), Al Ali, L. (Lawien), Boerwinkle, E.A. (Eric), Briguori, C. (Carlo), Carlquist, J.F. (John), Carruthers, K.F. (Kathryn), Casu, G. (Gavino), Deanfield, J. (John), Deloukas, P. (Panos), Dudbridge, F. (Frank), Engstrøm, T. (Thomas), Fitzpatrick, N. (Natalie), Fox, K.M. (Kim), Gigante, B. (Bruna), James, S.K. (Stefan), Lokki, M.-L. (Marja-Liisa), Lotufo, P.A. (Paulo A.), Marziliano, N. (Nicola), Mordi, I.R. (Ify R.), Muhlestein, J.B. (Joseph), Newton-Cheh, C. (Christopher), Pitha, J. (Jan), Saely, C.H. (Christoph H.), Samman-Tahhan, A. (Ayman), Sandesara, P.B. (Pratik B.), Teren, A. (Andrej), Timmis, A. (Adam), Van de Werf, F. (Frans), Wilde, A.A.M. (Arthur), Ford, I. (Ian), Stott, D.J. (David. J.), Algra, A. (Ale), Andreassi, M.G. (Maria G.), Ardissino, D. (Diego), Arsenault, B.J. (Benoit J.), Ballantyne, C. (Christie), Bergmeijer, T.O. (Thomas O.), Bezzina, C.R. (Connie R.), Body, S.C. (Simon C.), Boersma, E.H. (Eric H.), Bogaty, P. (Peter), Bots, M.L. (Michiel), Brenner, H. (Hermann), Brugts, J.J. (Jasper), Burkhardt, R. (Ralph), Carpeggiani, C. (Clara), Condorelli, G. (Gianluigi), Cooper-Dehoff, R.M. (Rhonda), Cresci, S. (Sharon), Danchin, N. (Nicolas), Faire, U. (Ulf) de, Doughty, R.N. (Robert N.), Drexel, H. (Heinz), Engert, J.C. (James C.), Fox, K.A.A. (Keith), Girelli, D. (Domenico), Grobbee, D.E. (Diederick E.), Hagström, E. (Emil), Hazen, S.L. (Stanley), Held, C. (Claes), Hemingway, H., Hoefer, I.E. (Imo), Hovingh, G.K. (G Kees), Jabbari, R. (Reza), Johnson, J.A. (Jennifer ), Jukema, J.W. (Jan Wouter), Kaczor, M.P. (Marcin P.), Kähönen, M. (Mika), Kettner, J. (Jiri), Kiliszek, M. (Marek), Klungel, O.H. (Olaf), Lagerqvist, B. (Bo), Lambrechts, D. (Diether), Laurikka, J.O. (Jari O.), Lehtimäki, T. (Terho), Lindholm, D. (Daniel), Mahmoodi, B.K. (Bakhtawar K.), Maitland-van der Zee, A-H. (Anke-Hilse), McPherson, R. (Ruth), Melander, O. (Olle), Metspalu, A. (Andres), Niemcunowicz-Janica, A. (Anna), Olivieri, O. (Oliviero), Opolski, G. (Grzegorz), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Pepine, C.J. (Carl), Pereira, A. (A.), Pilote, L. (Louise), Erdmann, J. (Jeanette), Richards, A.M. (A Mark), Sanak, M. (Marek), Siegbahn, A. (Agneta), Simon, T. (Tabassome), Sinisalo, J. (Juha), Smith, J.G. (J Gustav), Schwartz, S.M. (Stephen), Stender, S. (Steen), Stewart, A.F. (Alexandre F.), Szczeklik, W. (Wojciech), Szpakowicz, A. (Anna), Tardif, J.-C. (Jean-Claude), Berg, J.M. (Jurrien) ten, Tfelt-Hansen, J. (Jacob), Thanassoulis, G. (George), Thiery, J.P. (Joachim), Torp-Pedersen, C. (Christian Tobias), Graaf, Y. (Yolanda) van der, Visseren, F.L.J. (Frank), Waltenberger, J. (Johannes), Weeke, P.E. (Peter E.), Harst, P. (Pim) van der, Lang, C.C. (Chim C.), Sattar, N. (Naveed), Cameron, V.A. (Vicky A.), Anderson, J.L. (Jeffrey), Brophy, J.M. (James M.), Pare, G. (Guillame), Horne, B.D. (Benjamin), Ye, S. (Shu), Wallentin, L. (Lars), Wauters, E. (Els), Samani, N.J. (Nilesh), Hingorani, A. (Aroon), and Asselbergs, F.W. (Folkert)

Abstract

BACKGROUND: The Genetics of Subsequent Coronary Heart Disease (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants a

Published
2019
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33. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)

Author

Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS, Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, and Ng, YS

Abstract

[This corrects the article DOI: 10.1002/acn3.725.].

Published
2019

34. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Author

Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS, Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, and Ng, YS

Abstract

OBJECTIVES: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with bi-allelic pathogenic variants in MTFMT. METHODS: Retrospective cohort study combining new cases and previously published cases. RESULTS: Thirty-eight patients with pathogenic variants in MTFMT were identified, including eight new cases. The median age of presentation was 14 months (range: birth to 17 years, interquartile range [IQR] 4.5 years), with developmental delay and motor symptoms being the most frequent initial manifestation. Twenty-nine percent of the patients survived into adulthood. MRI headings in MTFMT pathogenic variants included symmetrical basal ganglia changes (62%), periventricular and subcortical white matter abnormalities (55%), and brainstem lesions (48%). Isolated complex I and combined respiratory chain deficiencies were identified in 31% and 59% of the cases, respectively. Reduction of the mitochondrial complex I and complex IV subunits was identified in the fibroblasts (13/13). Sixteen pathogenic variants were identified, of which c.626C>T was the most common. Seventy-four percent of the patients were alive at their last clinical review (median 6.8 years, range: 14 months to 31 years, IQR 14.5 years). INTERPRETATION: Patients that harbour pathogenic variants in MTFMT have a milder clinical phenotype and disease progression compared to LS caused by other nuclear defects. Fibroblasts may preclude the need for muscle biopsy, to prove causality of any novel variant.

Published
2019

38. Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes.

Author

Roewer, L., Krawczak, Michael, Willuweit, S., Nagy, M., Alves, Cintia, Amorim, Antonio, Anslinger, K., Augustin, C., Betz, Andrea, Bosch, Elena, Caglia, Alessandra, Carracedo, Angel, Corach, D., Dekairelle, A.-F., Dobosz, T., Dupuy, Berit Myhre, Furedi, S., Gehrig, C., Gusmao, Leonor, Henke, Jurgen, Henke, Lotte, Hidding, M., Hohoff, Carsten, Hoste, Bernadette, Jobling, Mark A., Kargel, H.J., de Knijff, P., Lessig, Rudiger, Liebeherr, E., Lorente, M., Martinez-Jarreta, B., Nievas, P., Nowak, M., Parson, Walther, Pascali, V.L., Penacino, G., Ploski, R., Rolf, B., Sala, A., Schmidt, U., Schmitt, C., Schneider, Peter M., Szibor, Reinhard, Teifel-Greding, J., and Kayser, M.

Subjects
Forensic genetics -- Conferences, meetings and seminars, Y chromosome -- Analysis, Haplotypes -- Analysis
Published
2001

39. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

Author

Cuenca S., Barriales-Villa R., Franaszczyk M., Coronado-Albi M.J., Rangel-Sousa D., Jiménez-Jáimez J., Ripoll-Vera T., Mogollón-Jiménez M.V., Fontalba-Romero A., Palomino-Doza J., Salas C., Hey T.M., Elliott P., Eiskjær H., Barriales R., Fernández Fernández X., Cicerchia M., Monserrat L., Ochoa J.P., Salazar-Mendiguchia J., Mogollón M.V., Ripoll T., Charron P., Richard P., Villard E., Palomino Doza J., Fontalba A., Alonso-Pulpón L., Cobo-Marcos M., Domínguez F., Garcia-Pavia P., Gómez-Bueno M., González-López E., Hernández-Hernández A., Hernández-Pérez F.J., López-Sainz Á., Restrepo-Córdoba A., Segovia-Cubero J., Toro R., de Gonzalo-Calvo D., Rosa Longobardo F., Limeres J., Rodriguez-Palomares J.F., Garcia-Pinilla J.M., López-Garrido M.A., Jiménez-Jaimez J., Garcia-Medina D., Rangel Sousa D., Peña M.L., Mogensen J., Morris-Hey T., Barton P.J., Cook S.A., Midwinter W., Roberts A.M., Ware J.S., Walsh R., Akhtar M., Elliott P.M., Rocha-Lopes L., Savvatis K., Syrris P., Michalak E., Ploski R., Sobieszczanska-Malek M., Bilinska Z., Pankuweit S., Asselbergs F., Baas A., Dooijes D., and Sammani A.

Subjects
Cardiomyopathy, Dilated, BAG3 protein, human, Adolescent, sex difference, electrocardiography, retrospective study, nonsense mutation, heart failure, signal transducing adaptor protein, protein localization, heart transplantation, Article, sudden cardiac death, BLC2 associated athanogene 3 gene, Cohort Studies, male, cardiovascular mortality, congestive cardiomyopathy, middle aged, follow up, chaperone, cardiovascular parameters, controlled study, genetics, human, gene mutation, penetrance, BAG3 protein, pathophysiology, Adaptor Proteins, Signal Transducing, Electroca, adult, apoptosis regulatory protein, clinical trial, cohort analysis, major clinical study, human tissue, unclassified drug, left ventricular enddiastolic diameter, multicenter study, female, priority journal, immunohistochemistry, young adult, prognosis, mutation, Apoptosis Regulatory Proteins, heart ventricle arrhythmia, heart left ventricle ejection fraction
Abstract

Background: The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. Objectives: This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. Methods: The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. Results: At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. Conclusions: DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations. © 2018 American College of Cardiology Foundation

Published
2018

40. P1610The genetic background of the disease in a group of patients with severe course of hypertrophic cardiomyopathy

Author

Franaszczyk, M, primary, Podgorska, A, additional, Dabrowski, M, additional, Poninska, J, additional, Spiewak, M, additional, Oreziak, A, additional, Sobieszczanska-Malek, M, additional, Zielinski, T, additional, Kusmierczyk, M, additional, Grzybowski, J, additional, Ploski, R, additional, Bilinska, Z T, additional, Witkowski, A, additional, Lutynska, A, additional, and Klopotowski, M, additional

Published
2019
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43. Clinical heterogeneity of polish patients with KAT6B–related disorder

Author

Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, and Smigiel Robert

Subjects
dysmorphism, GPS, KAT6B gene, KAT6B–related disorder, SBBYSS, Genetics, QH426-470
Abstract

Abstract Background Say‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family. Currently, diseases caused by pathogenic variants in KAT6B (KAT6B‐related disorders) comprise two allelic entities: SBBYSS variant of Ohdo syndrome and genitopatellar syndrome (GPS). Increase in the number of cases with overlapping GPS/SBBYSS phenotype which makes it necessary to redefine this group of phenotypes as KAT6B‐related disorders or KAT6B spectrum disorders. Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs/great toes. This syndrome also typically involves skeletal problems including patellar hypoplasia/agenesis. Methods Here we report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease. One known and five novel KATB6 pathogenic variants were identified by molecular diagnostics using Next Generation Sequencing (NGS). Results We present a detailed phenotypic analysis of six individuals with KAT6B‐related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. In all of our patients facial dysmorphism as well as developmental and speech delay were present. Additionally, all but one patients presented with hypotonia, ocular abnormalities and long thumbs. Most of our probands showed blepharophimosis and skeletal (mainly knee) defects. Contrary to previously reported severe patellar defects (hypoplasia/agenesis) anomalies presented by our patients were less severe (dysplasia, habitual dislocation, subluxation) referring to KAT6B‐related disorders. Conclusion While most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.

Published
2023
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45. P2863Sudden cardiac arrest in patients without overt heart disease - Clinical assessment, family screening and genetic testing by next generation sequencing

Author

Stepien-Wojno, M, primary, Poninska, I, additional, Foss-Nieradko, B, additional, Rydzanicz, M, additional, Michalak, E, additional, Bilinska, M, additional, Truszkowska, G, additional, Baranowski, R, additional, Kowalik, I, additional, Chmielewski, P, additional, Lutynska, A, additional, Biernacka, E K, additional, Stepinska, J, additional, Ploski, R, additional, and Bilinska, Z T, additional

Published
2018
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46. Differences in Blood Pressure in Infants after General Anesthesia Compared to Awake Regional Anesthesia (GAS Study - A Prospective Randomized Trial).

Author

Jacobs P., Rivkin M.J., Sadler-Greever M., Faulk D., Udomtecha D., Titler S., Stringham S., Manning A., Ploski R., Farrow-Gillespie A., Cooper T., Card E., Boardman W.A., Goebel T.K., McCann M.E., Withington D.E., Arnup S.J., Davidson A.J., Disma N., Frawley G., Morton N.S., Bell G., Hunt R.W., Bellinger D.C., Polaner D.M., Leo A., Absalom A.R., Von Ungern-Sternberg B.S., Izzo F., Szmuk P., Young V., Soriano S.G., De Graaff J.C., Fajgman M., Tronconi D., van der Zee D.C., Hulscher J.B.F., Spanjersberg R., Jacobs P., Rivkin M.J., Sadler-Greever M., Faulk D., Udomtecha D., Titler S., Stringham S., Manning A., Ploski R., Farrow-Gillespie A., Cooper T., Card E., Boardman W.A., Goebel T.K., McCann M.E., Withington D.E., Arnup S.J., Davidson A.J., Disma N., Frawley G., Morton N.S., Bell G., Hunt R.W., Bellinger D.C., Polaner D.M., Leo A., Absalom A.R., Von Ungern-Sternberg B.S., Izzo F., Szmuk P., Young V., Soriano S.G., De Graaff J.C., Fajgman M., Tronconi D., van der Zee D.C., Hulscher J.B.F., and Spanjersberg R.

Abstract

BACKGROUND: The General Anesthesia compared to Spinal anesthesia (GAS) study is a prospective randomized, controlled, multisite, trial designed to assess the influence of general anesthesia (GA) on neurodevelopment at 5 years of age. A secondary aim obtained from the blood pressure data of the GAS trial is to compare rates of intraoperative hypotension after anesthesia and to identify risk factors for intraoperative hypotension. METHOD(S): A total of 722 infants <=60 weeks postmenstrual age undergoing inguinal herniorrhaphy were randomized to either bupivacaine regional anesthesia (RA) or sevoflurane GA. Exclusion criteria included risk factors for adverse neurodevelopmental outcome and infants born at <26 weeks of gestation. Moderate hypotension was defined as mean arterial pressure measurement of <35 mm Hg. Any hypotension was defined as mean arterial pressure of <45 mm Hg. Epochs were defined as 5-minute measurement periods. The primary outcome was any measured hypotension <35 mm Hg from start of anesthesia to leaving the operating room. This analysis is reported primarily as intention to treat (ITT) and secondarily as per protocol. RESULT(S): The relative risk of GA compared with RA predicting any measured hypotension of <35 mm Hg from the start of anesthesia to leaving the operating room was 2.8 (confidence interval [CI], 2.0-4.1; P <.001) by ITT analysis and 4.5 (CI, 2.7-7.4, P <.001) as per protocol analysis. In the GA group, 87% and 49%, and in the RA group, 41% and 16%, exhibited any or moderate hypotension by ITT, respectively. In multivariable modeling, group assignment (GA versus RA), weight at the time of surgery, and minimal intraoperative temperature were risk factors for hypotension. Interventions for hypotension occurred more commonly in the GA group compared with the RA group (relative risk, 2.8, 95% CI, 1.7-4.4 by ITT). CONCLUSION(S): RA reduces the incidence of hypotension and the chance of intervention to treat it compared with sevoflurane anest

Published
2017

47. Towards complete male individualization with rapidly mutating Y-chromosomal STRs

Author

Ballantyne, KN, Ralf, A, Aboukhalid, R, Achakzai, NM, Anjos, MJ, Ayub, Q, Balažic, J, Ballantyne, J, Ballard, DJ, Berger, B, Bobillo, C, Bouabdellah, M, Burri, H, Butler, J, Capal, T, Caratti, S, Carracedo, A, Cartault, F, Carvalho, EF, Cheng, B, Coble, MD, Comas, D, Corach, D, D'Amato, ME, Davison, S, de Carvalho, EF, de Knijff, Peter, de Ungria, M, Decorte, Ronny, Dobosz, T, Dupuy, BM, Elmrghni, S, Gliwinski, M, Gomes, SC, Grol, L, Haas, C, Hanson, E, Henke, J, Hill, CR, Holmlund, G, Honda, K, Immel, U, Inoue, S, Jobling, MA, Kaddura, M, Kim, JS, Kim, SH, Kim, W, King, TE, Klausriegler, E, Kling, D, Kovacevic, LL, Kovatsi, L, Krajewski, P, Kravchenko, S, Larmuseau, Maarten, Lee, EY, Lee, SH, Lessig, R, Livshits, LA, Marjanovic, D, Minarik, M, Mizuno, N, Moreira, H, Morling, N, Mukherjee, M, Nagaraju, J, Neuhuber, F, Nie, S, Nilasitsataporn, P, Nishi, T, Oh, HH, Olofsson, J, Onofri, V, Palo, JU, Pamjav, H, Parson, W, Payet, C, Petlach, M, Phillips, C, Ploski, R, Prasad, SPR, Primorac, D, Purnnomo, GA, Purps, J, Rangel, H, Rebala, K, Rerkamnuaychoke, B, Rey, D, Robino, C, Rodríguez, F, Roewer, L, Rosa, A, Sajantila, A, Sala, A, Salvador, J, Sanz, P, Schmitt, C, Sharma, AK, Silva, DA, Shin, KJ, Sijen, T, Sirker, M, Siváková, D, Skaro, V, Solano-Matamoros, C, Souto, L, Stenzl, V, Sudoyo, H, Syndercombe-Court, D, Tagliabracci, A, Taylor, D, Tillmar, A, Tsybovsky, IS, Tyler-Smith, C, van der Gaag, K, Vanek, D, Völgyi, A, Ward, D, Willemse, P, Winkler, C, Yap, EPH, Yong, RYY, Zupanic Pajnic, I, and Kayser, M

Subjects
haplotypes, paternal lineage, RM YSTRs, Y-STRs, forensic, Y-chromosome
Abstract

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father–son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. ispartof: Human Mutation vol:35 issue:8 pages:1021-1032 status: published

Published
2014

48. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, K.N., Ralf, A., Aboukhalid, R., Achakzai, N.M., Anjos, M.J., Ayub, Q., Balazic, J., Ballantyne, J., Ballard, D.J., Berger, B., Bobillo, C., Bouabdellah, M., Burri, H., Capal, T., Caratti, S., Cardenas, J., Cartault, F., Carvalho, E.F., Carvalho, M., Cheng, B.W., Coble, M.D., Comas, D., Corach, D., D'Amato, M.E., Davison, S., Knijff, P. de, Ungria, M.C.A. de, Decorte, R., Dobosz, T., Dupuy, B.M., Elmrghni, S., Gliwinski, M., Gomes, S.C., Grol, L., Haas, C., Hanson, E., Henke, J., Henke, L., Herrera-Rodriguez, F., Hill, C.R., Holmlund, G., Honda, K., Immel, U.D., Inokuchi, S., Jobling, M.A., Kaddura, M., Kim, J.S., Kim, S.H., Kim, W., King, T.E., Klausriegler, E., Kling, D., Kovacevic, L., Kovatsi, L., Krajewski, P., Kravchenko, S., Larmuseau, M.H.D., Lee, E.Y., Lessig, R., Livshits, L.A., Marjanovic, D., Minarik, M., Mizuno, N., Moreira, H., Morling, N., Mukherjee, M., Munier, P., Nagaraju, J., Neuhuber, F., Nie, S.J., Nilasitsataporn, P., Nishi, T., Oh, H.H., Olofsson, J., Onofri, V., Palo, J.U., Pamjav, H., Parson, W., Petlach, M., Phillips, C., Ploski, R., Prasad, S.P.R., Primorac, D., Purnomo, G.A., Purps, J., Rangel-Villalobos, H., Rebala, K., Rerkamnuaychoke, B., Gonzalez, D.R., Robino, C., Roewer, L., Rosa, A., Sajantila, A., Sala, A., Salvador, J.M., Sanz, P., Schmitt, C., Sharma, A.K., Silva, D.A., Shin, K.J., Sijen, T., Sirker, M., Sivakova, D., Skaro, V., Solano-Matamoros, C., Souto, L., Stenzl, V., Sudoyo, H., Syndercombe-Court, D., Tagliabracci, A., Taylor, D., Tillmar, A., Tsybovsky, I.S., Tyler-Smith, C., Gaag, K.J. van der, Vanek, D., Volgyi, A., Ward, D., Willemse, P., Yap, E.P.H., Yong, R.Y.Y., Pajnic, I.Z., Kayser, M., Hjelt Institute (-2014), Forensic Medicine, PaleOmics Laboratory, and Genetic Identification

Subjects
Male, Rural Population, haplotypes, Y-chromosome, Y-STRs, RM Y-STRs, paternal lineage, forensic, Asia, Forensic Science, Urban Population, Cell- och molekylärbiologi, education, Paternity, Gene Frequency, Humans, Alleles, Chromosomes, Human, Y, 1184 Genetics, developmental biology, physiology, Genetic Variation, DNA Fingerprinting, RM Y-STRs, Y-STRs, Y-chromosome, forensic, haplotypes, paternal lineage, Pedigree, Europe, Genetics, Population, Africa, 3111 Biomedicine, Americas, Cell and Molecular Biology, Microsatellite Repeats, Rättsmedicin
Abstract

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**

Published
2014

49. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Author

Poninska, J. K., primary, Bilinska, Z. T., additional, Franaszczyk, M., additional, Michalak, E., additional, Rydzanicz, M., additional, Szpakowski, E., additional, Pollak, A., additional, Milanowska, B., additional, Truszkowska, G., additional, Chmielewski, P., additional, Sioma, A., additional, Janaszek-Sitkowska, H., additional, Klisiewicz, A., additional, Michalowska, I., additional, Makowiecka-Ciesla, M., additional, Kolsut, P., additional, Stawinski, P., additional, Foss-Nieradko, B., additional, Szperl, M., additional, Grzybowski, J., additional, Hoffman, P., additional, Januszewicz, A., additional, Kusmierczyk, M., additional, and Ploski, R., additional

Published
2016
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50. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Author

Wortmann, S.B., Zietkiewicz, S., Kousi, M., Szklarczyk, R.J., Haack, T.B., Gersting, S.W., Muntau, A.C., Rakovic, A., Renkema, G.H., Rodenburg, R.J., Strom, T.M., Meitinger, T., Rubio-Gozalbo, M.E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J.H., Karnebeek, C.D. van, Lillquist, Y., Lucke, T., Ounap, K., Zordania, R., Yaplito-Lee, J., Bokhoven, H. van, Spelbrink, J.N., Vaz, F.M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M.A.A.P., Brouwer, A.P.M. de, Prokisch, H., Katsanis, N., Wevers, R.A., Wortmann, S.B., Zietkiewicz, S., Kousi, M., Szklarczyk, R.J., Haack, T.B., Gersting, S.W., Muntau, A.C., Rakovic, A., Renkema, G.H., Rodenburg, R.J., Strom, T.M., Meitinger, T., Rubio-Gozalbo, M.E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J.H., Karnebeek, C.D. van, Lillquist, Y., Lucke, T., Ounap, K., Zordania, R., Yaplito-Lee, J., Bokhoven, H. van, Spelbrink, J.N., Vaz, F.M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M.A.A.P., Brouwer, A.P.M. de, Prokisch, H., Katsanis, N., and Wevers, R.A.

Abstract

Item does not contain fulltext, We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families. CLPB encodes caseinolytic peptidase B homolog ClpB, a member of the AAA+ protein family. To evaluate the relevance of CLPB in the pathogenesis of this syndrome, we developed a zebrafish model and an in vitro assay to measure ATPase activity. Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consistent with cerebellar and cerebral atrophy that could be rescued by wild-type, but not mutant, human CLPB mRNA. Consistent with these data, the loss-of-function effect of one of the identified variants (c.1222A>G [p.Arg408Gly]) was supported further by in vitro evidence with the mutant peptides abolishing ATPase function. Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria.

Published
2015

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