Author/Authors :
zaki, m.s. national research centre (nrc) - clinical genetics department,human genetics and genome research division, Egypt , sharaf el-din, w.e. national research centre (nrc) - stem cell research lab,centre of excellence for advanced sciences (ceas), Egypt , hamdy, g.m. ain shams university - faculty of science - biochemistry department, Egypt , kamal, i.h. king abdulaziz university - faculty of science - biochemistry department, Saudi Arabia , kamal, i.h. ain shams university - faculty of science - biochemistry department, Egypt , abdel aleem, a.k. national research centre (nrc) - stem cell research lab,centre of excellence for advanced sciences (ceas), egypt
Abstract :
Rett syndrome (RTT) is a progressive neurodevelopmental disorder that affects mainly females comprising one of the most common causes of mental retardation in females. Mutations in the X-linked MECP2 gene have been identified to be the major cause for RTT. This study represents one of the limited MECP2 molecular analyses done on Egyptian patients with RTT,in which direct sequencing of MECP2 coding region in 10 female Egyptian patients provisionally diagnosed to have RTT was carried out. Four different pathogenic mutations were identified in four patients; three missense (C380T,C397T and C916T) and one nonsense (C382T). The four mutations,C → T transitions,were located in exon four. Patients with MECP2 mutation showed the clinical course of typical RTT. Analysis of X chromosome inactivation (XCI) pattern of genomic DNA in patients proved to be positive for MECP2 mutations identifying one patient with skewed inactivation pattern. © 2012 Production and hosting by Elsevier B.V.
Keywords :
MECP2 , Missense , Nonsense , Rett syndrome (RTT) , XCI
