First reports of fetal SMARCC1 related hydrocephalus.

Authors :: Rive Le Gouard N
Nicolle R
Lefebvre M
Gelot A
Heide S
Gerasimenko A
Grigorescu R
Derive N
Jouannic JM
Garel C
Valence S
Quenum-Miraillet G
Chantot-Bastaraud S
Keren B
Heron D
Attie-Bitach T
Source :: European journal of medical genetics [Eur J Med Genet] 2023 Aug; Vol. 66 (8), pp. 104797. Date of Electronic Publication: 2023 Jun 05.
Publication Year :: 2023
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.<br />Competing Interests: Declaration of competing interest The authors declare no potential conflict of interest.<br /> (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)