학술논문
First reports of fetal SMARCC1 related hydrocephalus.
Document Type
Case Study
Author
Rive Le Gouard, Nicolas; Nicolle, Romain; Lefebvre, Mathilde; Gelot, Antoinette; Heide, Solveig; Gerasimenko, Anna; Grigorescu, Romulus; Derive, Nicolas; Jouannic, Jean-Marie; Garel, Catherine; Valence, Stéphanie; Quenum-Miraillet, Geneviève; Chantot-Bastaraud, Sandra; Keren, Boris; Heron, Delphine; Attie-Bitach, Tania
Source
Subject
*WHOLE genome sequencing
*GENETIC counseling
*HYDROCEPHALUS
*HUMAN phenotype
*FETUS
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Language
ISSN
1769-7212
Abstract
The SMARCC1 gene has been involved in congenital ventriculomegaly with aqueduct stenosis but only a few patients have been reported so far, with no antenatal cases, and it is currently not annotated as a morbid gene in OMIM nor in the Human Phenotype Ontology. Most of the reported variants are loss of function (LoF) and are often inherited from unaffected parents. SMARCC1 encodes a subunit of the mSWI/SNF complex and affects the chromatin structure and expression of several genes. Here, we report the two first antenatal cases of SMARCC1 LoF variants detected by Whole Genome Sequencing (WGS). Ventriculomegaly is the common feature in those fetuses. Both identified variants are inherited from a healthy parent, which supports the reported incomplete penetrance of this gene. This makes the identification of this condition in WGS as well as the genetic counseling challenging. [ABSTRACT FROM AUTHOR]