title: A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
abstract: Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes. The three-dimensional structures of the wild-type and mutant GPR143 proteins were determined using SWISS-MODEL. The transmission of the disease in the pedigree clearly followed an X-linked pattern. The proband had significant iris and fundus hypopigmentation. Optical coherence tomography showed severe foveal hypoplasias in both eyes of the proband. A novel splicing site (G/C) mutation was found on the boundary of the 6th intron and the 7th exon of the GPR143 gene, resulting in a 9-amino-acid deletion (codons 257-265) in the 6th transmembrane domain of the GPR143 protein. In conclusion, a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree.
authors.affiliation: Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
authors.forename: C Y
authors.initials: CY
authors.lastname: Cai
authors.forename: H
authors.initials: H
authors.lastname: Zhu
authors.forename: W
authors.initials: W
authors.lastname: Shi
authors.forename: L
authors.initials: L
authors.lastname: Su
authors.forename: O
authors.initials: O
authors.lastname: Shi
authors.forename: C Q
authors.initials: CQ
authors.lastname: Cai
authors.forename: C
authors.initials: C
authors.lastname: Ling
authors.forename: W D
authors.initials: WD
authors.lastname: Li
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000175:diagnosis / Q000235:genetics*; D000595:Amino Acid Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics; D005091:Exons; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017434:Protein Structure, Tertiary; D012326:RNA Splicing
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; C516168:FRMD7 protein, human; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins