SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
revised:
10
08
2023
received:
25
06
2023
accepted:
13
08
2023
medline:
14
9
2023
pubmed:
28
8
2023
entrez:
28
8
2023
Statut:
ppublish
Résumé
A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss-of-function heterozygous variant in the SMARCC1 gene inherited from an unaffected mother. The SMARCC1 gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the SMARCC1 OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, SMARCC1 is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as likely pathogenic and empowered the couple to make informed reproductive choices.
Substances chimiques
SMARCC1 protein, human
0
Transcription Factors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1374-1377Informations de copyright
© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
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Furey CG, Choi J, Jin SC, et al. De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus. Neuron. 2018;99(2):302-314, e304. https://doi.org/10.1016/j.neuron.2018.06.019
Jin SC, Dong W, Kundishora AJ, et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med. 2020;26(11):1754-1765. https://doi.org/10.1038/s41591-020-1090-2
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Hydrocephalus, Congenital, 5, Susceptibility to; HYC5. OMIM; 2023. Accessed March 7, 2023. https://omim.org/entry/620241
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