First reports of fetal SMARCC1 related hydrocephalus.

Eur J Med Genet

Service de Médecine Génomique des maladies rares, UF MP5, Hôpital Necker-Enfants Malades, AP-HP Université Paris Cité, Paris, France; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France. Electronic address:

Published: August 2023

AI Article Synopsis

  • * Most variants of the SMARCC1 gene are loss of function (LoF) and typically passed down from unaffected parents, suggesting incomplete penetrance.
  • * This research presents the first antenatal cases of SMARCC1 LoF variants found through Whole Genome Sequencing, highlighting the challenges in diagnosis and genetic counseling due to its inheritance patterns.

Article 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.

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Source
http://dx.doi.org/10.1016/j.ejmg.2023.104797DOI Listing

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