title: [Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].
abstract: OBJECTIVE
  To screen the mutation in the RPGR gene in a large Chinese family with X-linked recessive retinitis pigmentosa (RP) and to describe the phenotype in affected males and female carriers.
  
  
  METHODS
  Ophthalmic examinations were performed in 77 family members of a RP pedigree to identify affected individuals. Polymerase chain reaction (PCR) and direct sequencing were used for screening of mutations in RPGR gene exon ORF15.
  
  
  RESULTS
  Mutation screening demonstrated a novel mutation, g.ORF15 + 577_578delAG, which caused an open reading frameshift and resulted in premature truncation of the RPGR protein. This mutation was detected in 8 affected male individuals and 14 obligate female carriers in this family and was found to segregate with the phenotype in this family. This mutation led to a severe RP phenotype in male affected individuals with some variability in the age of onset of night blindness and loss of visual acuity, but was recessive in female carriers without a RP phenotype. However the most striking phenotypic feature in female carriers in this pedigree was moderate to high myopia with refractive error ranging from -5.00 D to -22.00 D in 14 female carriers.
  
  
  CONCLUSIONS
  This novel mutation in RPGR ORF15 causes serious RP phenotype in males and no RP phenotype in female carriers. Moderate to high myopia was a particular feature for female carriers in this pedigree. Our finding expands the spectrum of RPGR mutations causing RP and phenotypic spectrum of the disease in Chinese family, which is useful for further genetic consultation and genetic diagnosis.
authors.affiliation: Department of Ophthalmology, Ningxia Medical University, Yinchuan 750004, China.
authors.forename: Zi-li
authors.initials: ZL
authors.lastname: Li
authors.forename: Wen-juan
authors.initials: WJ
authors.lastname: Zhuang
authors.forename: Wei
authors.initials: W
authors.lastname: Zhao
authors.forename: Xin-fang
authors.initials: XF
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Rui-hua
authors.initials: RH
authors.lastname: Meng
authors.forename: Wei-ning
authors.initials: WN
authors.lastname: Rong
authors.forename: Xun-lun
authors.initials: XL
authors.lastname: Sheng
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human