Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
Date
2002
Authors
Topçu, M.
Akyerli, C.
Sayi, A.
Törüner, G. A.
Koçoǧlu, S. R.
Cimbiş, M.
Özçelik, T.
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Source Title
European Journal of Human Genetics
Print ISSN
1018-4813
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Publisher
Nature Publishing
Volume
10
Issue
1
Pages
77 - 81
Language
English
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Journal Title
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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.
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Keywords
MECP2 , Rett 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