English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
Add to Basket
 Local TagsRelease HistoryDetailsSummary
  Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., et al. (2006). Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of Medical Genetics, 43(5), e22-e22. doi:10.1136/jmg.2005.039867.

Item is

 

show all hide all

Basic

show hide
Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-84C4-8 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-84C5-6
Genre: Journal Article
Alternative Title : J Med Genet.

Files

show Files
hide Files
:
e22.pdf (Any fulltext), 2MB
 
File Permalink:
-
Name:
e22.pdf
Description:
-
OA-Status:
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: INSTITUT
License:
-

Locators

show

Creators

show
hide
 Creators:
Seifert, W., Author
Holder-Espinasse, M., Author
Spranger, S., Author
Hoeltzenbein, Maria1, Author
Rossier, E., Author
Dollfus, H., Author
Lacombe, H., Author
Verloes, A., Author
Chrzanowska, K. H., Author
Maegawa, G. H. B., Author
Chitayat, D., Author
Kotzot, D., Author
Huhle, D., Author
Meinecke, P., Author
Albrecht, B., Author
Mathijssen, I., Author
Leheup, B., Author
Raile, K., Author
Hennies, H. C., Author
Horn, D., Author
Affiliations:
1Max Planck Society, ou_persistent13              

Content

show
hide
Free keywords: Cohen syndrome; allelic heterogeneity; facial dysmorphism; microcephaly; myopia
 Abstract: Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethnically diverse series of patients. Brief clinical descriptions of 24 patients with CS are provided. The patients were from 16 families of different ethnic backgrounds and between 2.5 and 60 years of age at assessment. DNA samples from all patients were analysed for mutations in COH1 by direct sequencing. Splice site mutations were characterised using reverse transcriptase PCR analysis from total RNA samples. In this series, we detected 25 different COH1 mutations; 19 of these were novel, including 9 nonsense mutations, 8 frameshift mutations, 4 verified splice site mutations, 3 larger in frame deletions, and 1 missense mutation. We observed marked variability of developmental and growth parameters. The typical facial gestalt was seen in 23/24 patients. Early onset progressive myopia was present in all the patients older than 5 years. Widespread pigmentary retinopathy was found in 12/14 patients assessed over 5 years of age. We present evidence for extended allelic heterogeneity of CS, with the vast majority of mutations leading to premature termination codons in COH1. Our data confirm the broad clinical spectrum of CS with some patients lacking even the characteristic facial gestalt and pigmentary retinopathy at school age.

Details

show
hide
Language(s): eng - English
 Dates: 2006-01-25
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 308496
DOI: 10.1136/jmg.2005.039867
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Journal of Medical Genetics
  Alternative Title : J Med Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 43 (5) Sequence Number: - Start / End Page: e22 - e22 Identifier: ISSN: 1468-6244