Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome

Maha S. Zaki, Wessam E. Sharaf El-Din, Germine M. Hamdy, I. H. Kamal, Alice Kamal Abd El Aleem

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)19-27
Number of pages9
JournalEgyptian Journal of Medical Human Genetics
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2012

Fingerprint

Rett Syndrome
Mutation
Genes
X Chromosome Inactivation
X-Linked Genes
Intellectual Disability
Exons
DNA

Keywords

  • MECP2
  • Missense
  • Nonsense
  • Rett syndrome (RTT)
  • XCI

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome. / Zaki, Maha S.; Sharaf El-Din, Wessam E.; Hamdy, Germine M.; Kamal, I. H.; Kamal Abd El Aleem, Alice.

In: Egyptian Journal of Medical Human Genetics, Vol. 13, No. 1, 02.2012, p. 19-27.

Research output: Contribution to journalArticle

Zaki, Maha S. ; Sharaf El-Din, Wessam E. ; Hamdy, Germine M. ; Kamal, I. H. ; Kamal Abd El Aleem, Alice. / Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome. In: Egyptian Journal of Medical Human Genetics. 2012 ; Vol. 13, No. 1. pp. 19-27.
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