| Genome-wide SNP array analysis in patients with features of sotos syndrome. | |
| | |
MedLine Citation:
|
PMID: 20215773 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND: Sotos syndrome is characterized by overgrowth, facial dysmorphism and learning impairment. Haploinsufficiency of NSD1 accounts for approximately 60-90% of the patients. Consequently, a considerable number of patients with features of Sotos syndrome remain without a molecular diagnosis. To date, target-gene approaches in these patients have not been successful. METHODS: Twenty-six Sotos syndrome-like patients were analyzed with a high-resolution whole-genome SNP array, and segregation was studied in the parents. RESULTS: Four possible pathogenic copy-number variants including deletions of 10p12.32-p12.31, 14q13.1, Xq21.1-q21.31 and a duplication of 15q11.2-q13.1 were detected. They varied in size from 155 kb to 13.36 Mb. The 10p12.32-p12.31 deletion revealed a candidate gene (PLXDC2) for overgrowth. The 14q13.1 deletion affected only the NPAS3 gene and the patient carrying this deletion displayed mental retardation as the main feature. The Xq21.1-q21.31 deletion and the 15q11.2-q13.1 duplication encompassed multiple genes of which several could be associated with phenotypic expression. CONCLUSION: The high-resolution genome-wide SNP array approach resulted in a detection rate of 15% of novel abnormalities and is therefore a powerful method to attain a molecular diagnosis in Sotos syndrome-like patients. Identified candidate genes provide directions for future screening of larger patient cohorts. |
| | |
Authors:
|
Remco Visser; Antoinet Gijsbers; Claudia Ruivenkamp; Marcel Karperien; H Maarten Reeser; Martijn H Breuning; Sarina G Kant; Jan M Wit |
Related Documents
:
|
11738843 - Neurobiology and neurochemistry of rett syndrome. 10535733 - Heterozygous germline mutations in the p53 homolog p63 are the cause of eec syndrome. 21874213 - Poor prognostic factors in complex regional pain syndrome 1: a delphi survey. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-09 |
Journal Detail:
|
Title: Hormone research in p?diatrics Volume: 73 ISSN: 1663-2826 ISO Abbreviation: Horm Res Paediatr Publication Date: 2010 |
Date Detail:
|
Created Date: 2010-03-10 Completed Date: 2010-06-08 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101525157 Medline TA: Horm Res Paediatr Country: Switzerland |
Other Details:
|
Languages: eng Pagination: 265-74 Citation Subset: IM |
Copyright Information:
|
Copyright (c) 2010 S. Karger AG, Basel. |
Affiliation:
|
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser @ lumc.nl |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
genetics* Adolescent Adult Child Child, Preschool DNA / chemistry, genetics Facies* Female Genome-Wide Association Study Gigantism / genetics* Humans Male Mental Retardation / genetics* Middle Aged Polymorphism, Single Nucleotide* Syndrome X Chromosome Inactivation Young Adult |
| Chemical | |
Reg. No./Substance:
|
9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Relative Bioavailability of Two Drug Products of Somatropin Obtained from Either the Milk of Transge...
Next Document: Association between a Common Variant near MC4R and Change in Body Mass Index Develops by Two Weeks o...