Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
Author
Topçu, M.
Akyerli, C.
Sayi, A.
Törüner, G. A.
Koçoǧlu, S. R.
Cimbiş, M.
Özçelik, T.
Date
2002Source Title
European Journal of Human Genetics
Print ISSN
1018-4813
Publisher
Nature Publishing
Volume
10
Issue
1
Pages
77 - 81
Language
English
Type
ArticleItem Usage Stats
88
views
views
41
downloads
downloads
Abstract
Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.
Keywords
MECP2Rett syndrome
Somatic mosaicism
Binding protein
Methyl CpG binding protein 2
Unclassified drug
Article
Case report
Chromosome analysis
Chromosome mosaicism
Clinical feature
Controlled study
Developmental disorder
Disease association
Disease severity
Female
Gene mutation
Hemizygosity
Human
Karyotype
Male
Neurologic disease
Phenotype
Priority journal
Rett syndrome
School child
X chromosome linkage
Child
Child, preschool
Chromosomal proteins, non-histone
Codon, nonsense
DNA-binding proteins
Humans
Infant
Infant, newborn
Male
Methyl-CpG-binding protein 2
Mosaicism
Repressor proteins
Rett syndrome
Permalink
http://hdl.handle.net/11693/24727Published Version (Please cite this version)
http://dx.doi.org/10.1038/sj/ejhg/5200745Collections
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