Journal article

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation

LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, H Archer, J Evans, A Clarke, GJ Pelka, PPL Tam, C Watson, H Lahooti, CJ Ellaway, B Bennetts, H Leonard, J Gecz

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2004

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected si..

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