title: A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
abstract: OBJECTIVE
  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.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, China.
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Panfeng
authors.initials: P
authors.lastname: Wang
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People; D016022:Case-Control Studies; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D005838:Genotype; D006162:Guanylate Cyclase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*
chemical_list: D011956:Receptors, Cell Surface; C110715:guanylate cyclase 1; D006162:Guanylate Cyclase