Investigating genotype-phenotype relationships in Rett syndrome using an international data set

• Published in: Neurology Vol. 70; no. 11; p. 868
• Main Authors: Bebbington, A, Anderson, A, Ravine, D, Fyfe, S, Pineda, M, de Klerk, N, Ben-Zeev, B, Yatawara, N, Percy, A, Kaufmann, W E, Leonard, H
• Format: Journal Article
• Language: English
• Published: United States 11.03.2008
• Subjects: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Databases, Genetic - statistics & numerical data; Female; Genotype; Humans; Infant; Internationality; Methyl-CpG-Binding Protein 2 - genetics; Middle Aged; Mutation - genetics; Phenotype; Research Design; Rett Syndrome - epidemiology; Rett Syndrome - genetics

Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large i...