Correlation between clinical features and MECP2 gene mutations in patients with rett syndrome
Joint Authors
Mujahid, Hisham
Hindawi, Aminah
Muhammadi, Muhammad
Source
Egyptian Pediatric Association Gazette
Issue
Vol. 63, Issue 1 (31 Mar. 2015), pp.25-31, 7 p.
Publisher
Egyptian Pediatric Association
Publication Date
2015-03-31
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Topics
Abstract AR
Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation.
Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are the main criteria associated with this disorder.
Sixty to ninety percent of the cases show MECP2 gene mutations, which reside on the X chromosome.
MECP2 regulates gene expression in a repressive manner.
The aim of this study is to estimate the incidence of MECP2 mutations in 32 female Egyptian patients clinically diagnosed with Rett syndrome, and to correlate their clinical features with MECP2 mutation status.
Patients: 32 female Egyptian patients with a mean age of 36.9 months diagnosed clinically to suffer from Rett syndrome are the cohort of this study.
Methods: Thorough clinical examination, MRI, EEG and testing for MECP2 gene mutations.
Results: Twenty of the 32 (62.5%) patients showed MECP2 mutations an incidence which falls within that reported in the literature.
Patients with MECP2 gene mutations presented with more severe clinical abnormalities.
Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis.
Also, patients with MECP2 mutation presented with a more severe phenotype
Abstract EN
Background : Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation.
Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are the main criteria associated with this disorder.
Sixty to ninety percent of the cases show MECP2 gene mutations, which reside on the X chromosome.
MECP2 regulates gene expression in a repressive manner.
The aim of this study is to estimate the incidence of MECP2 mutations in 32 female Egyptian patients clinically diagnosed with Rett syndrome, and to correlate their clinical features with MECP2 mutation status.
Patients : 32 female Egyptian patients with a mean age of 36.9 months diagnosed clinically to suffer from Rett syndrome are the cohort of this study.
Methods : Thorough clinical examination, MRI, EEG and testing for MECP2 gene mutations.
Results : Twenty of the 32 (62.5 %) patients showed MECP2 mutations an incidence which falls within that reported in the literature.
Patients with MECP2 gene mutations presented with more severe clinical abnormalities.
Conclusions : Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis.
Also, patients with MECP2 mutation presented with a more severe phenotype.
American Psychological Association (APA)
Mujahid, Hisham& Hindawi, Aminah& Muhammadi, Muhammad. 2015. Correlation between clinical features and MECP2 gene mutations in patients with rett syndrome. Egyptian Pediatric Association Gazette،Vol. 63, no. 1, pp.25-31.
https://search.emarefa.net/detail/BIM-564919
Modern Language Association (MLA)
Mujahid, Hisham…[et al.]. Correlation between clinical features and MECP2 gene mutations in patients with rett syndrome. Egyptian Pediatric Association Gazette Vol. 63, no. 1 (Mar. 2015), pp.25-31.
https://search.emarefa.net/detail/BIM-564919
American Medical Association (AMA)
Mujahid, Hisham& Hindawi, Aminah& Muhammadi, Muhammad. Correlation between clinical features and MECP2 gene mutations in patients with rett syndrome. Egyptian Pediatric Association Gazette. 2015. Vol. 63, no. 1, pp.25-31.
https://search.emarefa.net/detail/BIM-564919
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 30-31
Record ID
BIM-564919