title: [Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].
abstract: OBJECTIVE
  To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.
  
  
  METHODS
  Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.
  
  
  RESULTS
  A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.
  
  
  CONCLUSIONS
  A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.
authors.affiliation: Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China. huajingwan@scu.edu.cn.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhao
authors.forename: Menglong
authors.initials: M
authors.lastname: Guan
authors.forename: Ling
authors.initials: L
authors.lastname: Wang
authors.forename: Yong
authors.initials: Y
authors.lastname: Liao
authors.forename: Jesse
authors.initials: J
authors.lastname: Li-Ling
authors.forename: Huajing
authors.initials: H
authors.lastname: Wan
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins