MECP2 Mutations or Polymorphisms in Mentally Retarded BoysDiagnostic Implications

被引：0
作者：
Violaine Bourdon
Christophe Philippe
Dominique Martin
Alain Verloès
Agnès Grandemenge
Philippe Jonveaux
机构：
[1] Laboratory of Medical Genetics,Service of Neonatalogy
[2] Laboratory of Medical Genetics, Unit of Medical Genetics
[3] Hôpital Robert Debré,undefined
来源：
Molecular Diagnosis | 2003年 / 7卷 / 1期
关键词：
Amino Acid Change; Rett Syndrome; FMR1 Gene; MECP2 Gene; MECP2 Mutation;
D O I：
10.1007/BF03260014
中图分类号：
学科分类号：
摘要：
Background: Among the well characterized X-linked conditions causing mental retardation, mutations in the methyl-CpG-binding protein 2 gene (MECP2) in Xq28 have been found in up to 85% of patients with Rett syndrome, a neurologic disorder which, in addition to other symptoms, severely affects higher cognitive functions in females. Mutations in the MECP2 gene are involved in a broad spectrum of phenotypes from classical Rett syndrome to mild intellectual difficulties in females and neonatal encephalopathy in males. Recently, mutations in the MECP2 gene were reported in males with non-specific mental retardation suggesting that defects in MECP2 could be responsible for up to 2% of X-linked mental retardation.
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页码：3 / 7
页数：4
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