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15 results on '"Hollander, N.S. den"'

1. Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study

Author

Sistermans, E.A., Henneman, L., Polstra, A., Voorhoeve, E., Zelderen-Bohla, S.L., Boon, E.M.J., Lombardi, M.P.R., Louwerens-Zintel, C., Smit, M., van Maarle, M.C., Tan-Sindhunata, M.B., van der Meij, K., Meij, H., Bax, C., Pajkrt, E., Linskens, I.H., Martin, L., Gitsels-van der Wal, J.T., Galjaard, R.J.H., Van Opstal, D., Srebniak, M.I., Jehee, F.M. Sarquis, Hollink, I.H.I.M., Sleutels, F., de Valk, W., Deelen, W.H., Joosten, A.M.S., Diderich, K.E.M., Redeker, M.E., Go, A.T.J.I., Knapen, M.F.C.M., Galjaard, S., Prinsen, A.K.E., Braat, A.P.G., Macville, M.V.E., Stevens, S.J.C., van der Wijngaard, A., Houben, L.H., van Esch-Lennarts, M.A.A., Hamers, L., Jetten, A.G.P., Ghesquiere, S.A.I., Koning, B. de, ZamaniEsteki, M., Heesterbeek, C.J., de Die-Smulders, C.E.M., Brunner, H., Pieters, M.J., Coumans, A.B.C., Smeets, D.F.C.M., Faas, B.H.W., Westra, D., Weiss, M.M., Derks-Prinsen, I., Feenstra, I., van Rij, M., Sikkel, E., Hoffer, M.J.V., Hollander, N.S. den, Verweij, E.J.T., Haak, M.C., Suijkerbuijk, R.F., Sikkema-Raddatz, B., van Langen, I.M., Bouman, K., Duin, L.K., Schuring-Blom, G.H., Lichtenbelt, K.D., Bekker, M.N., van der Ven, A.J.E.M., van Vliet-Lachotzki, E., Pot, J., van ‘t Padje, S., Bakker, I.M.C., Bradley, E.J., Heesterbeek, Catharina J., Tjan-Heijnen, Vivianne C.G., Heimovaara, Joosje H., Lenaerts, Liesbeth, Lok, Christianne, Vriens, Ingeborg J.H., Van Opstal, Diane, Boon, Elles M.J., Sie, Daoud, de Die-Smulders, Christine E.M., Amant, Frédéric, and Macville, Merryn V.E.

Published
2024
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2. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing

Author

Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium, Human genetics, Amsterdam Reproduction & Development (AR&D), Obstetrics and gynaecology, Pathology, Rehabilitation medicine, APH - Quality of Care, Obstetrics and Gynaecology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Public Health, Clinical Genetics, Obstetrics & Gynecology, Department of Psychology, Education and Child Studies, Clinical genetics, Amsterdam Reproduction & Development, Emergency Medicine, Research Methods and Techniques, RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and MUMC+: DA KG AIOS (9)

Subjects
Placenta, Trisomy, first tier test, Cohort Studies, genome-wide, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Genetics, Humans, cfDNA, Genetics (clinical), confined placental mosaicism, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Mosaicism, Other Research Radboud Institute for Health Sciences [Radboudumc 0], NIPS, fetal trisomy, PREECLAMPSIA, common trisomies, prenatal screening, CELL-FREE DNA, Female, NIPT, Follow-Up Studies, rare autosomal trisomies
Abstract

Contains fulltext : 251979.pdf (Publisher’s version ) (Open Access) In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight

Published
2022
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3. Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

Author

Heesterbeek, C.J., Aukema, S.M., Galjaard, R.J.H., Boon, E.M.J., Srebniak, M.I., Bouman, K., Faas, B.H.W., Govaerts, L.C.P., Hoffer, M.J.V., Hollander, N.S. den, Lichtenbelt, K.D., Maarle, M.C. van, Schuurman, L.V., Rij, M.C. van, Schuring-Blom, G.H., Stevens, S.J.C., Tan-Sindhunata, G., Esteki, M.Z., Die-Smulders, C.E.M. de, Tjan-Heijnen, V.C.G., Henneman, L., Sistermans, E.A., Macville, M.V.E., Dutch NIPT Consortium, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Interne Geneeskunde, MUMC+: DA KG AIOS (9), MUMC+: DA KG Lab Specialisten (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: MA Medische Oncologie (9), Human genetics, Amsterdam Reproduction & Development (AR&D), Pathology, APH - Quality of Care, Clinical Genetics, and Public Health

Subjects
Chromosome Aberrations, Cancer Research, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Aneuploidy, All institutes and research themes of the Radboud University Medical Center, Oncology, SDG 3 - Good Health and Well-being, Pregnancy, Neoplasms, Prenatal Diagnosis, Humans, Female, Follow-Up Studies, Retrospective Studies
Abstract

PURPOSE: Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for cancer. Diagnostic routing after malignancy suspicious–NIPT faces many challenges. Here, we detail malignancy suspicious–NIPT cases, and describe the clinical characteristics, chromosomal aberrations, and diagnostic routing of the patients with a confirmed malignancy. Clinical lessons can be learned from our experience. METHODS: Patients with NIPT results indicative of a malignancy referred for tumor screening between April 2017 and April 2020 were retrospectively included from a Dutch nationwide NIPT implementation study, TRIDENT-2. NIPT profiles from patients with confirmed malignancies were reviewed, and the pattern of chromosomal aberrations related to tumor type was analyzed. We evaluated the diagnostic contribution of clinical and genetic examinations. RESULTS: Malignancy suspicious–NIPT results were reported in 0.03% after genome-wide NIPT, and malignancies confirmed in 16 patients (16/48, 33.3%). Multiple chromosomal aberrations were seen in 23 of 48 patients with genome-wide NIPT, and a malignancy was confirmed in 16 patients (16/23, 69.6%). After targeted NIPT, 0.005% malignancy suspicious–NIPT results were reported, in 2/3 patients a malignancy was confirmed. Different tumor types and stages were diagnosed, predominantly hematologic malignancies (12/18). NIPT data showed recurrent gains and losses in primary mediastinal B-cell lymphomas and classic Hodgkin lymphomas. Magnetic resonance imaging and computed tomography were most informative in diagnosing the malignancy. CONCLUSION: In 231,896 pregnant women, a low percentage (0.02%) of NIPT results were assessed as indicative of a maternal malignancy. However, when multiple chromosomal aberrations were found, the risk of a confirmed malignancy was considerably high. Referral for extensive oncologic examination is recommended, and may be guided by tumor-specific hallmarks in the NIPT profile.

Published
2022
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4. Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

Author

Heesterbeek, Catharina J., Aukema, Sietse M., Galjaard, R.H., Boon, E.M., Srebniak, M.I., Bouman, Katelijne, Faas, B.H.W., Hollander, N.S. den, Die-Smulders, C.E.M. de, Rij, M.C. van, Tjan-Heijnen, V.C., Sistermans, Erik A., Macville, Merryn V. E., Heesterbeek, Catharina J., Aukema, Sietse M., Galjaard, R.H., Boon, E.M., Srebniak, M.I., Bouman, Katelijne, Faas, B.H.W., Hollander, N.S. den, Die-Smulders, C.E.M. de, Rij, M.C. van, Tjan-Heijnen, V.C., Sistermans, Erik A., and Macville, Merryn V. E.

Abstract

Item does not contain fulltext

Published
2022

5. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Author

Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M., Macville, M.V.E., Galjaard, R.H., Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M., Macville, M.V.E., and Galjaard, R.H.

Abstract

Item does not contain fulltext, In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.

Published
2022

6. TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Author

Meij, K.R.M. van der, Sistermans, E.A., Macville, M.V.E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M.J., Boter, M., Diderich, K.E.M., Die-Smulders, C.E.M. de, Duin, L.K., Faas, B.H.W., Feenstra, I., Haak, M.C., Hoffer, M.J.V., Hollander, N.S. den, Hollink, I.H.I.M., Jehee, F.S., Knapen, M.F.C.M., Kooper, A.J.A., Langen, I.M. van, Lichtenbelt, K.D., Linskens, I.H., Maarle, M.C. van, Oepkes, D., Pieters, M.J., Schuring-Blom, G.H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D.F.C.M., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Ven, A.J.E.M. van der, Zelderen-Bhola, S.L. van, Henneman, L., Galjaard, R.J.H., Opstal, D. van, Weiss, M.M., Dutch NIPT Consortium, Health Psychology Research (HPR), Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics and Gynaecology, Human Genetics, Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, Obstetrics and gynaecology, and APH - Quality of Care

Subjects
0301 basic medicine, Trisomy 13 Syndrome, IMPACT, 030105 genetics & heredity, genome-wide, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Down Syndrome/diagnosis, Genetics(clinical), DOWN-SYNDROME, Young adult, cfDNA, First, Genetics (clinical), Netherlands, Trisomy 13 Syndrome/diagnosis, Genome, 030219 obstetrics & reproductive medicine, Obstetrics, implementation study, Middle Aged, Prognosis, fetal trisomy, common trisomies, Parental anxiety, CELL-FREE DNA, Christian ministry, Female, Pregnancy Trimester, HEALTH, Genetic Testing/methods, PREGNANT-WOMEN, Human, rare autosomal trisomies, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Screening test, Adolescent, first tier test, Netherlands/epidemiology, Prenatal care, ORGANIZATION, Article, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, medicine, Genetics, Journal Article, Humans, Genetic Testing, Trisomy 18 Syndrome/diagnosis, Chromosome Aberrations, business.industry, Genome, Human, Non invasive, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Health Plan Implementation, medicine.disease, NIPS, Pregnancy Trimester, First, prenatal screening, EXPERIENCE, Down Syndrome, Trisomy, business, NIPT, Trisomy 18 Syndrome, Follow-Up Studies
Abstract

The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)—96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13—were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.

Published
2019
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7. Putting genome-wide sequencing in neonates into perspective (vol 24, pg 1074, 2019)

Author

Sluijs, P.J. van der, Aten, E., Barge-Schaapveld, D.Q.C.M., Bijlsma, E.K., Bokenkamp-Gramann, R., Kaat, L.D., Doorn, R. van, Putte, D.F. van de, Haeringen, A. van, Harkel, A.D.J. ten, Hilhorst-Hofstee, Y., Hoffer, M.J.V., Hollander, N.S. den, Ierland, Y. van, Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E.A.R., Peeters-Scholte, C.M.P.C.D., Potjer, T.P., Rij, M. van, Ruivenkamp, C.A.L., Rutten, J.W., Steggerda, S.J., Suerink, M., Tan, R.N.G.B., Tuin, K. van der, Visser, R., Werf-'t Lam, A.S. van der, Williams, M., Witlox, R., and Santen, G.W.E.

Published
2019
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8. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

Author

Sluijs, P.J. van der, Jansen, S., Vergano, S.A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wodl, S., Berry, K., Bijlsma, E.K., Bok, L.A., Brouwer, A.F.J., Burgt, I. van der, Campeau, P.M., Canham, N., Chrzanowska, K., Chu, Y.W.Y., Chung, B.H.Y., Dahan, K., Rademaeker, M. de, Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E.R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E.H., Grasshoff, U., Haeringen, A. van, Heitink, K.R., Herkert, J.C., Hollander, N.S. den, Horn, D., Hunt, D., Kant, S.G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L.W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G.M.S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J.B., Netzer, C., Ockeloen, C.W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S.N.M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S.P., Roifman, M., Rooryck, C., Ropers, F.G., Rosello, M., Ruivenkamp, C.A.L., Sagiroglu, M.S., Sallevelt, S.C.E.H., Calvo, A.S., Simsek-Kiper, P.O., Soares, G., Solaeche, L., Sonmez, F.M., Splitt, M., Steenbeek, D., Stegmann, A.P.A., Stumpel, C.T.R.M., Tanabe, S., Uctepe, E., Utine, G.E., Veenstra-Knol, H.E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A.T., Wheeler, P., Wilson, G.N., Wilson, L.C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., Vries, B.B.A. de, Clayton-Smith, J., Santen, G.W.E., and Acibadem University Dspace

Abstract

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2019

9. EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

Author

Boer, A. de, Vermeulen, K., Egger, J.I.M., Janzing, J.G., Leeuw, N. de, Veenstra-Knol, H.E., Hollander, N.S. den, Bokhoven, J.H.L.M. van, Staal, W.G., Kleefstra, T., Boer, A. de, Vermeulen, K., Egger, J.I.M., Janzing, J.G., Leeuw, N. de, Veenstra-Knol, H.E., Hollander, N.S. den, Bokhoven, J.H.L.M. van, Staal, W.G., and Kleefstra, T.

Abstract

Contains fulltext : 182339.pdf (publisher's version ) (Open Access), Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability. A high degree of psychopathology is associated with this syndrome. A few parents with a mosaic EHMT1 mutation have been detected upon testing after a child was diagnosed with a germline EHMT1 defect. At first glance, carriers of a mosaic EHMT1 mutation appeared to function normally. However, recent studies have shown that de novo, postzygotic mutations in important developmental genes significantly contribute to autism spectrum disorder (ASD). Therefore, we hypothesized that EHMT1 mosaicism could cause neuropsychiatric defects. To investigate this, we performed a detailed investigation of cognitive neuropsychiatric parameters in parents identified with EHMT1 mosaicism.

Published
2018

10. X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Author

Gijsbers, A.C.J., Hollander, N.S. den, Enden, A.T.J.M. van den, Vijfhuizen, L., Bijlsma, E.K., Haeringen, A. van, Hansson, K.B.M., Bakker, E., Breuning, M.H., and Ruivenkamp, C.A.L.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, mental disorders
Abstract

Studies to identify copy number variants (CNVs) on the X-chromosome have revealed novel genes important in the causation of X-linked mental retardation (XLMR). Still, for many CNVs it is unclear whether they are associated with disease or are benign variants. We describe six different CNVs on the X-chromosome in five male patients with mental retardation that were identified by conventional karyotyping and single nucleotide polymorphism array analysis. One deletion and five duplications ranging in size from 325 kb to 12.5 Mb were observed. Five CNVs were maternally inherited and one occurred de novo. We discuss the involvement of potential candidate genes and focus on the complexity of X-chromosomal duplications in males inherited from healthy mothers with different X-inactivation patterns. Based on size and/or the presence of XLMR genes we were able to classify CNVs as pathogenic in two patients. However, it remains difficult to decide if the CNVs in the other three patients are pathogenic or benign.© 2010 John Wiley & Sons A/S.

Published
2011

11. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Author

Santen, G.W., Aten, E., Sun, Y, Almomani, R., Gilissen, C.F., Nielsen, M., Kant, S.G., Snoeck, I.N., Peeters, E.A., Hilhorst-Hofstee, Y., Wessels, M.W., Hollander, N.S. den, Ruivenkamp, C.A., van Ommen, G.J., Breuning, M.H., den Dunnen, J.T., van Haeringen, A., Kriek, M., Santen, G.W., Aten, E., Sun, Y, Almomani, R., Gilissen, C.F., Nielsen, M., Kant, S.G., Snoeck, I.N., Peeters, E.A., Hilhorst-Hofstee, Y., Wessels, M.W., Hollander, N.S. den, Ruivenkamp, C.A., van Ommen, G.J., Breuning, M.H., den Dunnen, J.T., van Haeringen, A., and Kriek, M.

Abstract

Item does not contain fulltext, We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.

Published
2012

12. Genotype-phenotype correlation in L1 syndrome: a guide for genetic counselling and mutation analysis.

Author

Vos, Y.J., Walle, H.E. de, Bos, K.K., Stegeman, J.A., Berge, A.M. ten, Bruining, M., Maarle, M.C. van, Elting, M.W., Hollander, N.S. den, Hamel, B.C.J., Fortuna, A.M., Sunde, L., Stolte-Dijkstra, I., Schrander-Stumpel, C.T.R.M., Hofstra, R.M., Vos, Y.J., Walle, H.E. de, Bos, K.K., Stegeman, J.A., Berge, A.M. ten, Bruining, M., Maarle, M.C. van, Elting, M.W., Hollander, N.S. den, Hamel, B.C.J., Fortuna, A.M., Sunde, L., Stolte-Dijkstra, I., Schrander-Stumpel, C.T.R.M., and Hofstra, R.M.

Abstract

Contains fulltext : 88493.pdf (publisher's version ) (Closed access)

Published
2010

13. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Author

Dijk, F.S. Van, Nesbitt, I.M., Nikkels, P.G.J., Dalton, A., Bongers, E.M.H.F., Kamp, J.M. van de, Hilhorst-Hofstee, Y., Hollander, N.S. den, Lachmeijer, A.M., Marcelis, C.L.M., Tan-Sindhunata, G.M., Rijn, R.R. van, Meijers-Heijboer, H., Cobben, J.M., Pals, G., Dijk, F.S. Van, Nesbitt, I.M., Nikkels, P.G.J., Dalton, A., Bongers, E.M.H.F., Kamp, J.M. van de, Hilhorst-Hofstee, Y., Hollander, N.S. den, Lachmeijer, A.M., Marcelis, C.L.M., Tan-Sindhunata, G.M., Rijn, R.R. van, Meijers-Heijboer, H., Cobben, J.M., and Pals, G.

Abstract

Contains fulltext : 80459.pdf (publisher's version ) (Closed access), Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase 1 (P3H1) because of CRTAP and LEPRE1 mutations. We analyzed five families in which 10 individuals had a clinical diagnosis of lethal and severe OI with an overmodification of collagen type I on biochemical testing and without a mutation in the collagen type I genes. CRTAP mutations not described earlier were identified in the affected individuals. Although it seems that one important feature of autosomal recessive OI due to CRTAP mutations is the higher consistency of radiological features with OI type II-B/III, differentiation between autosomal dominant and autosomal recessive OI on the basis of clinical, radiological and biochemical investigations proves difficult in the affected individuals reported here. These observations confirm that once a clinical diagnosis of OI has been made in an affected individual, biochemical testing for overmodification of collagen type I should always be combined with molecular genetic analysis of the collagen type I genes. If no mutations in the collagen type I genes are found, additional molecular genetic analysis of the CRTAP and LEPRE1 genes should follow. This approach will allow proper identification of the genetic cause of lethal or severe OI, which is important in providing prenatal diagnosis, preimplantation genetic diagnosis and estimating recurrence risk.

Published
2009

14. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Author

Zweier, C., Sticht, H., Bijlsma, E.K., Clayton-Smith, J., Boonen, S., Fryer, A., Greally, M.T., Hoffmann, L., Hollander, N.S. den, Jongmans, M.C.J., Kant, S.G., King, M.D., Lynch, S.A., McKee, S., Midro, A.T., Park, S.M., Ricotti, V., Tarantino, E., Wessels, M., Peippo, M., Rauch, A., Zweier, C., Sticht, H., Bijlsma, E.K., Clayton-Smith, J., Boonen, S., Fryer, A., Greally, M.T., Hoffmann, L., Hollander, N.S. den, Jongmans, M.C.J., Kant, S.G., King, M.D., Lynch, S.A., McKee, S., Midro, A.T., Park, S.M., Ricotti, V., Tarantino, E., Wessels, M., Peippo, M., and Rauch, A.

Abstract

Item does not contain fulltext, BACKGROUND: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation. METHODS: TCF4 mutational analysis was performed in 117 patients with PTHS-like features. RESULTS: In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies. CONCLUSION: This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.

Published
2008

15. Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez

Author

Wessels, M.W., Hollander, N.S. den, Cohen-Overbeek, T.E., Oberstein, M.S. Lesnik, Nash, R.M., Wladimiroff, J.W., Niermeijer, M.F., and Willems, P.J.

Abstract

The group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484–489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation. © 2002 Wiley-Liss, Inc.

Published
2002
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