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.
Editor(s)
Advisor
Supervisor
Co-Advisor
Co-Supervisor
Instructor
Citation Stats
Series
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.
Source Title
European Journal of Human Genetics
Publisher
Nature Publishing
Course
Other identifiers
Book Title
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
Degree Discipline
Degree Level
Degree Name
Citation
Permalink
Published Version (Please cite this version)
Language
English
Type
Article