| Cognitive and behavioral profile of fragile X boys: correlations to molecular data. | |
| | |
MedLine Citation:
|
PMID: 11078566 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is associated with transcriptional silencing of the FMR1 gene. The lack of FMR1 protein is believed to be responsible for the typical physical and mental characteristics of the syndrome. To analyze the specific phenotype of that syndrome as well as possible associations between the phenotype and the genotype, we examined a group of 49 fragile X boys and a control group of 16 patients with tuberous sclerosis. To determine the cognitive and behavioral phenotype, the Kaufman Assessment Battery for Children (K-ABC), the Child Behavior Checklist (4/18), and a structured psychiatric interview (Kinder DIPS) were used. The genotype was analyzed by the Southern blot method. The phenotype of boys with FXS is characterized by a specific cognitive profile with strengths in acquired knowledge and in simultaneous processing. The psychiatric comorbidity is high and ADHD (attention deficit hyperactivity disorder), oppositional defiant disorder, enuresis, and encopresis predominate. In a group of 24 fragile X boys, no significant correlations between the specific aspects of the phenotype and the genotype were found. |
| | |
Authors:
|
M Backes; B Genç; J Schreck; W Doerfler; G Lehmkuhl; A von Gontard |
Related Documents
:
|
16931616 - Horner's syndrome after placement of a peripherally inserted central catheter. 7332376 - The prevalence of raynaud's syndrome in rheumatoid arthritis. 11229516 - Novel polymorphism in the fmr1 gene resulting in a "pseudodeletion" of fmr1 in a common... 6652576 - Alternating horner's syndrome: is it or isn't it? 2278226 - Cerebral gigantism: report of one case. 1087926 - Unusual combination of immune and endocrine deficiencies. a possible case of early-onse... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics Volume: 95 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Nov |
Date Detail:
|
Created Date: 2000-12-04 Completed Date: 2001-01-04 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 150-6 Citation Subset: IM |
Copyright Information:
|
Copyright 2000 Wiley-Liss, Inc. |
Affiliation:
|
Department of Child and Adolescent Psychiatry, University of Cologne, Germany. M.Backes@Uni-Koeln.DE |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
5' Untranslated Regions Adolescent Attention Deficit Disorder with Hyperactivity / complications Attention Deficit and Disruptive Behavior Disorders / complications Blotting, Southern Case-Control Studies Child Child, Preschool CpG Islands DNA Methylation Encopresis / complications Enuresis / complications Fragile X Syndrome / diagnosis*, genetics*, physiopathology* Genotype Humans Intelligence Tests Male Methylation Phenotype Psychometrics Transcription, Genetic Trinucleotide Repeat Expansion X Chromosome* |
| Chemical | |
Reg. No./Substance:
|
0/5' Untranslated Regions |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methyl...
Next Document: Yunis-Varon syndrome: evidence for a lysosomal storage disease.