English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Cohen syndrome diagnosis using whole genome arrays

Rivera-Brugues, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Gohring, I., et al. (2011). Cohen syndrome diagnosis using whole genome arrays. J Med Genet, 48(2), 136-40. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20921020 http://jmg.bmj.com/content/48/2/136.full.pdf.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-794E-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-794F-9
Genre: Journal Article

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Rivera-Brugues, N., Author
Albrecht, B., Author
Wieczorek, D., Author
Schmidt, H., Author
Keller, T., Author
Gohring, I., Author
Ekici, A. B., Author
Tzschach, A.1, Author              
Garshasbi, M.1, Author              
Franke, K., Author
Klopp, N., Author
Wichmann, H. E., Author
Meitinger, T., Author
Strom, T. M., Author
Hempel, M., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

Content

show
hide
Free keywords: Base Sequence; Child, Preschool; DNA Copy Number Variations; Developmental Disabilities/genetics/pathology; Female; Fingers/abnormalities/pathology; Genotype; Humans; Infant; Intellectual Disability/genetics/pathology; Male; Microcephaly/genetics/pathology; Molecular Sequence Data; Muscle Hypotonia/genetics/pathology; Myopia/genetics/pathology; Obesity/genetics/pathology; Oligonucleotide Array Sequence Analysis; *Phenotype; Sequence Analysis, DNA; Vesicular Transport Proteins/*genetics
 Abstract: BACKGROUND: Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial features. The COH1 gene, which contains 62 exons, is so far the only gene known to be associated with Cohen syndrome. Point mutations, deletions and duplications have been described in this gene. Oligonucleotide arrays have reached a resolution which allows the detection of intragenic deletions and duplications, especially in large genes such as COH1. METHOD AND RESULTS: High density oligonucleotide array data from patients with unexplained mental retardation (n=1523) and normal controls (n=1612) were analysed for copy number variation (CNV) changes. Intragenic heterozygous deletions in the COH1 gene were detected in three patients but no such changes were detected in the controls. Subsequent sequencing of the COH1 gene revealed point mutations in the second allele in all three patients analysed. CONCLUSION: Genome-wide CNV screening with high density arrays provides a tool to detect intragenic deletions in the COH1 gene. This report presents an example of how microarrays can be used to identify autosomal recessive syndromes and to extend the phenotypic and mutational spectrum of recessive disorders.

Details

show
hide
Language(s):
 Dates: 2011
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: J Med Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 48 (2) Sequence Number: - Start / End Page: 136 - 40 Identifier: ISSN: 1468-6244 (Electronic) 0022-2593 (Linking)