title: Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
abstract: OBJECTIVE
  There are few genetic studies and clinical descriptions of Asian patients with X-linked ocular albinism (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1.
  
  
  METHODS
  Six families with OA1 were recruited from our pediatric and genetic eye clinic. Genomic DNA was prepared from venous leukocytes. The coding regions of GPR143 were amplified by polymerase chain reaction, and subsequently analyzed by direct sequencing. The variations detected were further evaluated in available family members as well as controls.
  
  
  RESULTS
  Mutations in GPR143 were identified in each of the six families: c.849delT (p.Val284SerfsX15); c.238_240delCTC (p.Leu80del); c.658+1G>A, c.353G>A (p.Gly118Glu); g.1103_7266del6164 (p.Gly84AlafsX65), which resulted in a deletion of exons 2 and 3; and g.25985_26546del562 (p.Gly296ValfsX26), which resulted in a deletion of exon 8. Of these six, c.353G>A is a known mutation, while the other five are novel. All affected patients had nystagmus, poor visual acuity, and foveal hypoplasia. However, hypopigmentation of the iris and fundus was very mild in these patients.
  
  
  CONCLUSIONS
  Five novel mutations and one known mutation were identified in six Chinese families with OA1. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of OA1 among the Chinese.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, People's Republic of China.
authors.forename: Shaohua
authors.initials: S
authors.lastname: Fang
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D016117:Albinism, Ocular / Q000150:complications / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities; D005654:Fundus Oculi; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007498:Iris / Q000473:pathology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020417:Nystagmus, Congenital / Q000150:complications; D010375:Pedigree; D010641:Phenotype; D010858:Pigmentation; D014792:Visual Acuity
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins