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A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

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

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A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

Xiao Xueshan X   Guo Xiangming X   Jia Xiaoyun X   Li Shiqiang S   Wang Panfeng P   Zhang Qingjiong Q  

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]

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