Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

doi:10.1375/twin.13.2.168

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Article

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Apr 2010

White Rose, Ho Gladys, Schmidt Swetlana, Scheffer Ingrid E, Fischer Alexandra, Yendle Simone C, Bienvenu Thierry, Nectoux Juliette, Ellaway Carolyn J, Darmanian Artur, Tong XingZhang, Cloosterman Desiree, Bennetts Bruce, Kalra Veena, Fullston Tod, Gecz Jozef, Cox Timothy C, Christodoulou John

Abstract excerpt

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent kinase-like 5)...

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Identifiers

PMID: 20397747
DOI: 10.1375/twin.13.2.168

Genes

CDKL5
MECP2

Variants

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