CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Details
Serval ID
serval:BIB_93D376F39E30
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Journal
European Journal of Human Genetics
ISSN
1018-4813 (Print)
Publication state
Published
Issued date
03/2005
Volume
13
Number
3
Pages
302-8
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Research Support, Non-U.S. Gov't --- Old month value: Mar
Abstract
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
Keywords
Alleles
Animals
Color Vision Defects/*genetics/physiopathology/veterinary
Cones (Retina)
Dog Diseases/genetics
Dogs
*Genes, Recessive
Humans
Ion Channels/*genetics
*Mutation
Phenotype
Pubmed
Web of science
Open Access
Yes
Create date
28/01/2008 12:54
Last modification date
20/08/2019 14:56