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Article

A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome.

Annals of clinical and laboratory science - 1 Jan 2011

Lee Eun Young, Chung Hee-Jung, Ki Chang-Seok, Yoo Jong-Ha, Choi Jong Rak

Abstract excerpt

Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT. Using DNA samples from a RTT patient and her parents, we sequenced three exons and flanking intron regions of the MECP2 gene using the polymerase chain reaction. Sequencing of the MECP2 gene in the proband revealed a novel 41-base pair deletion in...

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Identifiers

PMID: 21325263

Genes

MECP2

Variants

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