Document Detail


Molecular approaches to the Rett syndrome gene.
MedLine Citation:
PMID:  10614568     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rett syndrome is a neurodevelopmental disorder affecting 1 in 10,000 to 15,000 females worldwide. Apparently normal at birth, girls with Rett syndrome undergo developmental regression and acquire a neurologic and behavioral profile that has been used to define diagnostic criteria for the disorder. Neurochemical and anatomic alterations indicate that Rett syndrome appears to result from an arrest of normal neuronal maturation. Although Rett syndrome generally occurs sporadically, rare familial recurrences indicate a genetic basis for the disorder. Data from familial recurrences are consistent with an X-linked dominant locus causing the classic phenotype in female patients and a distinct, more severe phenotype in hemizygous male patients. Exclusion mapping data from rare kindreds with recurrent Rett syndrome localize the gene to the distal long arm of the X chromosome (Xq27.3-Xqter).
Authors:
N C Schanen
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  14     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  1999 Dec 
Date Detail:
Created Date:  2000-01-14     Completed Date:  2000-01-14     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  806-14     Citation Subset:  IM    
Affiliation:
Department of Human Genetics and Pediatrics and the Mental Retardation Research Center, University of California, Los Angeles, School of Medicine, 90095-7088, USA. schanen@ucla.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
Chromosome Mapping
Female
Genetic Predisposition to Disease*
Humans
Infant
Infant, Newborn
Male
Pedigree
Rett Syndrome / genetics*,  physiopathology
X Chromosome / genetics*
Grant Support
ID/Acronym/Agency:
K08 HD-01103/HD/NICHD NIH HHS; P30 HD04612/HD/NICHD NIH HHS

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


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