Article
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
European journal of medical genetics - 1 Mar 2012
Ounap Katrin, Puusepp-Benazzouz Helen, Peters Maire, Vaher Ulvi, Rein Reet, Proos Anne, Field Mike, Reimand Tiia
Abstract excerpt
Mutations in the KDM5C gene (lysine (K)-specific demethylase 5C gene; also known as JARID1C and SMCX; MIM 314690) were recently associated with X-linked intellectual disability (XLID). To date only two case reports and five studies that screen for mutations in the KDM5C gene have been published, with 21 mutations reported. Herein we present a large family with XLID caused by a novel mutation c.2T > C in the start...
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