Dataset Information
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
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ABSTRACT: Purpose
To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients.Methods
Genomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to map the disease locus, and Sanger dideoxy sequencing was used to detect the mutation in a candidate gene.Results
Initially, genome-wide linkage analysis mapped the disease to 17p13.1 between D17S831 and D17S799, with a maximum lod score of 2.71 for D17S938 and D17S1852 at theta=0. Sequence analysis of the guanylate cyclase 2D gene (GUCY2D) in the linkage interval detected a recurrent heterozygous mutation, c.2513G>A (p.Arg838His). This mutation was present in all eight patients with adCOD, but neither in any of the six unaffected family members nor in 192 control chromosomes.Conclusions
adCOD in this family is caused by a recurrent mutation in GUCY2D. adCOD can be detected in the first few years after birth in the family by fundus observation and electroretinogram recordings.
SUBMITTER: Xiao X
PROVIDER: S-EPMC3244478 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Publications
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Molecular vision 20111215
<h4>Purpose</h4>To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients.<h4>Methods</h4>Genomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to map the disease locus, and Sanger dideoxy sequencing was used to detect the mutation in a candidate gene.<h4>Results</h4>Initially, genome-wide linkage analysis mapped the disease to 17p ...[more]