Document Detail


Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
MedLine Citation:
PMID:  11521215     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rett syndrome (RTT) is an X-linked condition which affects almost exclusively females. Here we report the first case of RTT syndrome in a boy with an XXY chromosomal constitution. Mutation analysis of the MECP2 gene in the affected patient revealed a 423 C-->G substitution in exon 4, resulting in a new stop codon (Y141 X). This change was not present in both his parents or in his older sister. Taking into account the incidence of both RTT syndrome as well as of Klinefelter syndrome, the probability for the simultaneous occurrence of these two events is very low (about approximately 1 in 10 to 15,000,000 births). However, the recent identification of mutations in the MECP2 gene in affected males indicates that screening of the MECP2 gene should be considered also in males with severe mental retardation (MR) in whom the most common forms of MR have been excluded.
Authors:
J S Schwartzman; A Bernardino; A Nishimura; R R Gomes; M Zatz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuropediatrics     Volume:  32     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-08-24     Completed Date:  2001-10-11     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  162-4     Citation Subset:  IM    
Affiliation:
Universidade Mackenzie, São Paulo, Brazil.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/X99686; OMIM/312750
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosomal Proteins, Non-Histone*
DNA Mutational Analysis
DNA-Binding Proteins / genetics*
Exons
Genetic Testing
Humans
Klinefelter Syndrome / diagnosis,  genetics*
Male
Mental Retardation / diagnosis,  genetics
Methyl-CpG-Binding Protein 2
Molecular Sequence Data
Mutation / genetics*
Repressor Proteins*
Rett Syndrome / diagnosis,  genetics*
Chemical
Reg. No./Substance:
0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 0/Repressor Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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