title: A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa.
abstract: OBJECTIVE
  To localize and identify the gene and mutations causing an X-linked Chinese family with retinitis pigmentosa.
  
  
  METHODS
  An XLRP Chinese family was ascertained and patients underwent ophthalmological examinations. Blood samples were collected and genomic DNA was extracted. Linkage scan was performed on genomic DNA from affected and unaffected family members using microsatellite markers flanking 17 known autosomal dominant loci and markers covering the entire X chromosome. Mutation screening of RPGR gene was carried out by direct DNA sequence analysis.
  
  
  RESULTS
  A genome wide scan yielded a lod score of 2.7 at θ=0 with DXS1068 and 3.29 at θ=0 with DXS993. This region harbors the RPGR gene. Direct DNA sequence analysis reveals one base pair deletion, gORF15+556delA, in all affected individuals. The deletion results in the frameshift change of RPGR gene and produces a truncated protein.
  
  
  CONCLUSIONS
  We identified a novel mutation, gORF15+556delA (p.Lys184fs), in a Han Chinese family with retinitis pigmentosa. This mutation expands the mutation spectrum of RPGR and helps to study molecular pathogenesis of RP further.
authors.affiliation: Tianjin Eye Institute, Tianjin Eye Hospital, Tianjin, People's Republic of China. lnd68@yahoo.com
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
authors.forename: Shuzhen
authors.initials: S
authors.lastname: Dai
authors.forename: Liling
authors.initials: L
authors.lastname: Zhang
authors.forename: Han
authors.initials: H
authors.lastname: Mei
authors.forename: Liming
authors.initials: L
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D001483:Base Sequence; D001766:Blindness / Q000151:congenital; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human