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Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

Brain & development - 1 Nov 2010

Monnerat Leila Schuindt, Moreira Aline Dos Santos, Alves Maria Carolina Viana, Bonvicino Cibele Rodrigues, Vargas Fernando Regla

Abstract excerpt

Rett syndrome (RS) is a neurodevelopmental disorder caused by mutations in MECP2 gene. Exons 2, 3, and 4, in addition to intronic and 3'UTR adjacent regions, were sequenced in 80 patients with RS. Twenty-nine sequence variations were detected in 49 patients, 34 (69.4%) patients with the classic form of RS, and 15 (30.6%) patients with atypical forms of RS. Thirteen of the 29 detected mutations represent novel...

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Source

Identifiers

PMID: 20031356
DOI: 10.1016/j.braindev.2009.11.007

Genes

MECP2

Provenance

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