Article
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2019
Diets Illja J, Prescott Trine, Champaigne Neena L, Mancini Grazia M S, Krossnes Bård, Frič Radek, Kocsis Kristina, Jongmans Marjolijn C J, Kleefstra Tjitske
Abstract excerpt
PURPOSE: SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three conditions. Heterozygous loss-of-function germline PV cause rhabdoid tumor predisposition syndrome and schwannomatosis. Missense PV and small in-frame deletions in exons 8 and 9 result in Coffin-Siris syndrome, which is characterized by intellectual disability...
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