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51. NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Author

Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., and Schaaf, Christian P.

Published
2014
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52. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Author

Genetica Sectie Oncogenetica, Child Health, Suerink, Manon, van der Klift, Heleen M, Ten Broeke, Sanne W, Dekkers, Olaf M, Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H, Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, van Os, Theo A, Rahner, Nils, Redeker, Bert J W, Olderode, Maran, Spruijt, Liesbeth, Vos, Yvonne J, Wagner, Anja, Morreau, Hans, Hes, Frederik J, Vasen, Hans F A, Tops, Carli M, Wijnen, Juul T, Nielsen, Maartje, Genetica Sectie Oncogenetica, Child Health, Suerink, Manon, van der Klift, Heleen M, Ten Broeke, Sanne W, Dekkers, Olaf M, Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H, Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, van Os, Theo A, Rahner, Nils, Redeker, Bert J W, Olderode, Maran, Spruijt, Liesbeth, Vos, Yvonne J, Wagner, Anja, Morreau, Hans, Hes, Frederik J, Vasen, Hans F A, Tops, Carli M, Wijnen, Juul T, and Nielsen, Maartje

Published
2016

53. CORRIGENDUM: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Author

Genetica Sectie Oncogenetica, Child Health, Suerink, Manon, Van Der Klift, Heleen M., Ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Munar, Gabriel Capell, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, Van Os, Theo A., Rahner, Nils, Redeker, Bert J W, Olderode-Berends, M. J W, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F A, Tops, Carli M., Wijnen, Juul T., Nielsen, Maartje, Genetica Sectie Oncogenetica, Child Health, Suerink, Manon, Van Der Klift, Heleen M., Ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Munar, Gabriel Capell, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, Van Os, Theo A., Rahner, Nils, Redeker, Bert J W, Olderode-Berends, M. J W, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F A, Tops, Carli M., Wijnen, Juul T., and Nielsen, Maartje

Published
2016

54. Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

Author

de Voer, Richarda M., primary, Hahn, Marc-Manuel, additional, Weren, Robbert D. A., additional, Mensenkamp, Arjen R., additional, Gilissen, Christian, additional, van Zelst-Stams, Wendy A., additional, Spruijt, Liesbeth, additional, Kets, C. Marleen, additional, Zhang, Junxiao, additional, Venselaar, Hanka, additional, Vreede, Lilian, additional, Schubert, Nil, additional, Tychon, Marloes, additional, Derks, Ronny, additional, Schackert, Hans K., additional, Geurts van Kessel, Ad, additional, Hoogerbrugge, Nicoline, additional, Ligtenberg, Marjolijn J. L., additional, and Kuiper, Roland P., additional

Published
2016
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55. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Author

Weren, Robbert D A, Ligtenberg, Marjolijn J L, Kets, C. Marleen, De Voer, Richarda M., Verwiel, Eugène T P, Spruijt, Liesbeth, Van Zelst-Stams, Wendy A G, Jongmans, Marjolijn C., Gilissen, Christian, Hehir-Kwa, Jayne Y., Hoischen, Alexander, Shendure, Jay, Boyle, Evan A., Kamping, Eveline J., Nagtegaal, Iris D., Tops, Bastiaan B J, Nagengast, Fokko M., Geurts Van Kessel, Ad, Van Krieken, J. Han J M, Kuiper, Roland P., Hoogerbrugge, Nicoline, Weren, Robbert D A, Ligtenberg, Marjolijn J L, Kets, C. Marleen, De Voer, Richarda M., Verwiel, Eugène T P, Spruijt, Liesbeth, Van Zelst-Stams, Wendy A G, Jongmans, Marjolijn C., Gilissen, Christian, Hehir-Kwa, Jayne Y., Hoischen, Alexander, Shendure, Jay, Boyle, Evan A., Kamping, Eveline J., Nagtegaal, Iris D., Tops, Bastiaan B J, Nagengast, Fokko M., Geurts Van Kessel, Ad, Van Krieken, J. Han J M, Kuiper, Roland P., and Hoogerbrugge, Nicoline

Published
2015

56. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Author

Genetica Sectie Oncogenetica, Weren, Robbert D A, Ligtenberg, Marjolijn J L, Kets, C. Marleen, De Voer, Richarda M., Verwiel, Eugène T P, Spruijt, Liesbeth, Van Zelst-Stams, Wendy A G, Jongmans, Marjolijn C., Gilissen, Christian, Hehir-Kwa, Jayne Y., Hoischen, Alexander, Shendure, Jay, Boyle, Evan A., Kamping, Eveline J., Nagtegaal, Iris D., Tops, Bastiaan B J, Nagengast, Fokko M., Geurts Van Kessel, Ad, Van Krieken, J. Han J M, Kuiper, Roland P., Hoogerbrugge, Nicoline, Genetica Sectie Oncogenetica, Weren, Robbert D A, Ligtenberg, Marjolijn J L, Kets, C. Marleen, De Voer, Richarda M., Verwiel, Eugène T P, Spruijt, Liesbeth, Van Zelst-Stams, Wendy A G, Jongmans, Marjolijn C., Gilissen, Christian, Hehir-Kwa, Jayne Y., Hoischen, Alexander, Shendure, Jay, Boyle, Evan A., Kamping, Eveline J., Nagtegaal, Iris D., Tops, Bastiaan B J, Nagengast, Fokko M., Geurts Van Kessel, Ad, Van Krieken, J. Han J M, Kuiper, Roland P., and Hoogerbrugge, Nicoline

Published
2015

57. Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; A case-control study Medical Genetics

Author

Genetica Sectie Oncogenetica, Child Health, Cancer, Potjer, Thomas P., Van Der Stoep, Nienke, Houwing-Duistermaat, Jeanine J., Konings, Ingrid C A W, Aalfs, Cora M., Van Den Akker, Peter C., Ausems, Margreet G., Dommering, Charlotte J., Van Der Kolk, Lizet E., Maiburg, Merel C., Spruijt, Liesbeth, Wagner, Anja, Vasen, Hans F A, Hes, Frederik J., Genetica Sectie Oncogenetica, Child Health, Cancer, Potjer, Thomas P., Van Der Stoep, Nienke, Houwing-Duistermaat, Jeanine J., Konings, Ingrid C A W, Aalfs, Cora M., Van Den Akker, Peter C., Ausems, Margreet G., Dommering, Charlotte J., Van Der Kolk, Lizet E., Maiburg, Merel C., Spruijt, Liesbeth, Wagner, Anja, Vasen, Hans F A, and Hes, Frederik J.

Published
2015

59. Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Author

de Voer, Richarda M., primary, Hahn, Marc-Manuel, additional, Mensenkamp, Arjen R., additional, Hoischen, Alexander, additional, Gilissen, Christian, additional, Henkes, Arjen, additional, Spruijt, Liesbeth, additional, van Zelst-Stams, Wendy A., additional, Marleen Kets, C., additional, Verwiel, Eugene T., additional, Nagtegaal, Iris D., additional, Schackert, Hans K., additional, van Kessel, Ad Geurts, additional, Hoogerbrugge, Nicoline, additional, Ligtenberg, Marjolijn J.L., additional, and Kuiper, Roland P., additional

Published
2015
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60. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Author

Weren, Robbert D A, primary, Ligtenberg, Marjolijn J L, additional, Kets, C Marleen, additional, de Voer, Richarda M, additional, Verwiel, Eugène T P, additional, Spruijt, Liesbeth, additional, van Zelst-Stams, Wendy A G, additional, Jongmans, Marjolijn C, additional, Gilissen, Christian, additional, Hehir-Kwa, Jayne Y, additional, Hoischen, Alexander, additional, Shendure, Jay, additional, Boyle, Evan A, additional, Kamping, Eveline J, additional, Nagtegaal, Iris D, additional, Tops, Bastiaan B J, additional, Nagengast, Fokko M, additional, Geurts van Kessel, Ad, additional, van Krieken, J Han J M, additional, Kuiper, Roland P, additional, and Hoogerbrugge, Nicoline, additional

Published
2015
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61. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

Author

ten Broeke, Sanne W., primary, Brohet, Richard M., additional, Tops, Carli M., additional, van der Klift, Heleen M., additional, Velthuizen, Mary E., additional, Bernstein, Inge, additional, Capellá Munar, Gabriel, additional, Gomez Garcia, Encarna, additional, Hoogerbrugge, Nicoline, additional, Letteboer, Tom G.W., additional, Menko, Fred H., additional, Lindblom, Annika, additional, Mensenkamp, Arjen R., additional, Moller, Pal, additional, van Os, Theo A., additional, Rahner, Nils, additional, Redeker, Bert J.W., additional, Sijmons, Rolf H., additional, Spruijt, Liesbeth, additional, Suerink, Manon, additional, Vos, Yvonne J., additional, Wagner, Anja, additional, Hes, Frederik J., additional, Vasen, Hans F., additional, Nielsen, Maartje, additional, and Wijnen, Juul T., additional

Published
2015
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66. Role of germline aberrations affecting CTNNA1, MAP3K6and MYD88in gastric cancer susceptibility

Author

Weren, Robbert D A, van der Post, Rachel S, Vogelaar, Ingrid P, van Krieken, J Han, Spruijt, Liesbeth, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Oliveira, Carla, Kamping, Eveline J, Schackert, Hans K, Ranzani, Guglielmina N, Gómez Garcóía, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Cats, Annemieke, Bjørnevoll, Inga, Hoogerbrugge, Nicoline, and Ligtenberg, Marjolijn J L

Abstract

BackgroundIn approximately 10% of all gastric cancer (GC) cases, a heritable cause is suspected. A subset of these cases have a causative germline CDH1mutation; however, in most cases the cause remains unknown. Our objective was to assess to what extent these remaining cases may be explained by germline mutations in the novel candidate GC predisposing genes CTNNA1, MAP3K6or MYD88.MethodsWe sequenced a large cohort of unexplained young and/or familial patients with GC (n=286) without a CDH1germline mutation for germline variants affecting CTNNA1, MAP3K6and MYD88using a targeted next-generation sequencing approach based on single-molecule molecular inversion probes.ResultsPredicted deleterious germline variants were not encountered in MYD88, but recurrently observed in CTNNA1(n=2) and MAP3K6(n=3) in our cohort of patients with GC. In contrast to deleterious variants in CTNNA1, deleterious variants in MAP3K6also occur frequently in the general population.ConclusionsBased on our results MAP3K6should no longer be considered a GC predisposition gene, whereas deleterious CTNNA1variants are confirmed as an infrequent cause of GC susceptibility. Biallelic MYD88germline mutations are at most a very rare cause of GC susceptibility as no additional cases were identified.

Published
2018
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68. Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

Author

Lammens, Chantal R.M., primary, Aaronson, Neil K., additional, Wagner, Anja, additional, Sijmons, Rolf H., additional, Ausems, Margreet G.E.M., additional, Vriends, Annette H. J.T., additional, Ruijs, Mariëlle W.G., additional, van Os, Theo A.M., additional, Spruijt, Liesbeth, additional, Gómez García, Encarna B., additional, Kluijt, Irma, additional, Nagtegaal, Tanja, additional, Verhoef, Senno, additional, and Bleiker, Eveline M.A., additional

Published
2010
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73. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2mutation carriers

Author

Suerink, Manon, van der Klift, Heleen M., ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G.W., Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, van Os, Theo A., Rahner, Nils, Redeker, Bert J.W., Olderode, Maran, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F.A., Tops, Carli M., Wijnen, Juul T., and Nielsen, Maartje

Abstract

Lynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations in the PMS2gene. We wished to establish whether genotype and/or parent-of-origin effects (POE) explain (part of) the reported variability in severity of the phenotype.

Published
2016
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74. Clinical Phenotype of 5 Females With a CDKL5 Mutation.

Author

Stalpers, Xenia L., Spruijt, Liesbeth, Yntema, Helger G., and Verrips, Aad

Subjects
*GENETIC mutation, *PHENOTYPES, *DISEASES in girls, *RETT syndrome, *INFANTILE spasms, *TOMOGRAPHY, *PATIENTS
Abstract

Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor visual, language, and motor development. However, these patients do not meet the consensus criteria for Rett syndrome since they lack the clear period of regression. Furthermore, in contrast to Rett syndrome, patients with CDKL5 mutations, have seizures or infantile spasms starting in the first weeks of life. We present clinical phenotype of 5 girls having a mutation in the CDKL5 gene. All mutations are novel and are pathogenic since they either lead to a frameshift in the reading frame or affect a consensus splice site. Four of the mutations are detected de novo in the affected girl. [ABSTRACT FROM PUBLISHER]

Published
2012
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75. Exploring shared clinical features and successful therapeutic interventions in CARD14‐associated papulosquamous eruption.

Author

Rossel, S. Vanya J., Reich, Adam, Baniel, Avital, Wertheim‐Tysarowska, Katarzyna, Frommherz, Leonie H., Nolberczak, Daniel, Lesiak, Aleksandra, Kwiek, Bartlomiej, Osipowicz, Katarzyna, Bekkenk, Marcel W., Spruijt, Liesbeth, Seyger, Marieke M. B., Kołt‐Kamińska, Marta, Giehl, Kathrin, Nartbutt, Joanna, Vreeburg, Maaike, Steijlen, Peter M., Sprecher, Eli, Geel, Michel, and Gostyński, Antoni H.

Subjects
*PITYRIASIS rubra, *MOLECULAR biology, *MEDICAL genetics, *PALMOPLANTAR keratoderma, *MEDICAL ethics committees, *ICHTHYOSIS
Abstract

The article explores shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption (CAPE), a condition caused by gain-of-function variants in the CARD14 gene. The study retrospectively analyzed 22 individuals from 16 families with CARD14 variants, showing variable responses to biologic treatments like ustekinumab, risankizumab, and bimekizumab. The research highlights the need for personalized treatment approaches for CAPE patients and suggests that early biologic intervention may lead to more sustained improvements. Further studies are needed to optimize treatment strategies for this rare condition. [Extracted from the article]

Published
2024
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76. Hypertrophic Left Calf and Multiple Flesh-coloured Subcutaneous Tumours in a 5-year-old Girl: A Quiz.

Author

van Geel, Maartje J., Wijnen, Marc, Hoppenreijs, Esther P. A. H., Gierenz, Nicole, Spruijt, Liesbeth, van Koolwijk, Martine P. A., Flucke, Uta, Blokx, Willeke A. M., and Seyger, Marieke M. B.

Subjects
FASCIITIS
Abstract

The article describes the case of a 5-year-old Caucasian girl presented with painful left calf swelling and subcutaneous skin tumours in the paraspinal region. Topics discussed include the patient's magnetic resonance imaging (MRI) test suggesting chronic fasciitis, generalised hypertrophy of the left calf shown by physical examination on the patient and thickening of subcutaneous structures as revealed by ultrasound of tumours on the back.

Published
2014
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77. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Author

Dorus A. Mans, Liesbeth Spruijt, Heleen H. Arts, Bart van Lier, Ronald Roepman, Alexander Hoischen, Peer Arts, Han G. Brunner, Christian Gilissen, Sarina G. Kant, Nine V A M Knoers, Joris A. Veltman, Marloes Steehouwer, Jeroen van Reeuwijk, Gilissen, Christian, Arts, Heleen H, Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A, Arts, Peer, Van Lier, Bart, Steehouwer, Marloes, Van Reeuwijk, Jeroen, Kant, Sarina G, Roepman, Ronald, Knoers, Nine V A M, Veltman, Joris A, and Brunner, Han G

Subjects
Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Compound heterozygosity, Exon, 0302 clinical medicine, Ectodermal Dysplasia, Abnormalities, Multiple/genetics, Exons/genetics, Genetics(clinical), Child, RNA Splice Sites/genetics, Exome, Genetics (clinical), Exome sequencing, Renal disorder [IGMD 9], Genetics, 0303 health sciences, Exons, Syndrome, Ectodermal Dysplasia/genetics, 3. Good health, Sensenbrenner syndrome, DNA/methods, Sequence Analysis, DNA/methods, Multiple/genetics, Abnormalities, Sequence Analysis, asphyxiating thoracic dystrophy cranioectodermal dysplasia retinal degeneration mutations mouse cilia protein obesity genome tulp3, Mutation/genetics, WDR35, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Intraflagellar transport, Report, medicine, Humans, Abnormalities, Multiple, Allele, Membrane Proteins/genetics, 030304 developmental biology, Base Sequence, Membrane Proteins, Sequence Analysis, DNA, medicine.disease, Molecular biology, Mutation, Apoptosis Regulatory Proteins/genetics, RNA Splice Sites, Apoptosis Regulatory Proteins, Cranioectodermal Dysplasia, exome sequencing, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 88664.pdf (Publisher’s version ) (Closed access) Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of the disease in each of the two patients independently, showing that it is possible to find the causative gene by sequencing the exome of a single sporadic patient. With RT-PCR, we demonstrate that a splice-site mutation in exon 2 of WDR35 alters splicing of RNA on the affected allele, introducing a premature stop codon. WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.

Published
2010
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78. The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection.

Author

Edmonds JL, Kirse DJ, Kearns D, Deutsch R, Spruijt L, and Naviaux RK

Subjects
Adolescent, Adult, California epidemiology, Child, Child, Preschool, Evoked Potentials, Auditory, Hearing Disorders epidemiology, Hearing Loss, Conductive epidemiology, Hearing Loss, Conductive etiology, Hearing Loss, Sensorineural epidemiology, Hearing Loss, Sensorineural etiology, Humans, Infant, Infant, Newborn, Middle Aged, Mitochondrial Diseases diagnosis, Mitochondrial Diseases genetics, Otitis Media epidemiology, Otitis Media etiology, Respiratory Tract Infections epidemiology, Risk, Hearing Disorders etiology, Mitochondrial Diseases complications, Respiratory Tract Infections etiology
Abstract

Objective: To report the nature and extent of hearing loss and other otolaryngological problems in patients with mitochondrial disease, and to document the risk of neurodegeneration with infection., Design: Medical chart review and telephone interview of 40 patients with documented mitochondrial disease., Setting: An international referral center for the diagnosis and management of mitochondrial disorders., Patients: We describe 40 patients with a definitive diagnosis of mitochondrial disease. Thirty-three (82%) were younger than 15 years., Results: Hearing loss was the most common clinical finding associated with mitochondrial disease. Twenty-eight (80%) of the 35 patients undergoing testing had hearing loss or significant auditory dysfunction. In 20 (57%) of these, brainstem conduction abnormalities were identified. Eight (30%) of the 27 patients had an abnormal number of recurrent upper respiratory tract infections, and 4 (50%) of these had life-threatening or neurodegenerative sequelae. Mitochondrial disease followed an episodic course, with periods of stasis or slow developmental progress, punctuated by neurodegenerative events in 18 (60%) of 30 patients. Intercurrent infection was recognized as a precipitant of neurodegenerative events in 13 (72%) of 18 patients with a history of episodic degeneration., Conclusions: Children and adults with mitochondrial disorders are at high risk for hearing loss and life-threatening complications of intercurrent infections. A constellation of audiologic abnormalities, multiorgan system involvement, and history of neuromuscular setbacks with infection strongly suggests mitochondrial disease. Knowledge of these features can lead to more rapid diagnosis and improved medical and surgical management for this special group of patients with fundamental defects in bioenergy metabolism.

Published
2002
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