title: A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
abstract: OBJECTIVE
  The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy.
  
  
  METHODS
  A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) genes was performed by direct sequencing of PCR-amplified exons in the proband. The detected GPR143 mutation was tested in all available family members and 200 normal controls by direct sequencing.
  
  
  RESULTS
  Congenital nystagmus, obvious fundus hypopigmentation, and foveal hypoplasia were observed in the proband but not in the carriers or the unaffected members. A novel splicing mutation c.658+1 g>t not found in 200 unrelated controls was identified and co-segregated with X-linked ocular albinism (XLOA) in this family. The fetus (V:5) was hemizygous for this mutant allele.
  
  
  CONCLUSIONS
  We identified a novel causative mutation of GPR143 in a five-generation Chinese family with XLOA. This expanded the mutation spectrum of GPR143 and provided data elucidating the diverse and variable effects of GPR143 mutations.
authors.affiliation: State Key Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Junjie
authors.initials: J
authors.lastname: Hu
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.forename: Jinjie
authors.initials: J
authors.lastname: Xue
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D005654:Fundus Oculi; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D007498:Iris / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020417:Nystagmus, Congenital / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010858:Pigmentation / Q000502:physiology; D011247:Pregnancy; D012326:RNA Splicing / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins