title: Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.
abstract: BACKGROUND
  The objective of this study was to determine the frequency and characteristics of mutations in the RP1 gene and to characterize mutations with the clinical features in the Chinese family with autosomal dominant retinitis pigmentosa (ADRP).
  
  
  METHODS
  Forty-three affected, unrelated Chinese individuals with ADRP were recruited between 2002 and 2006. Polymerase chain reaction and direct DNA sequencing were used to screen in the entire coding region and splice sites of the RP1 gene. Cosegregation analysis and population frequency studies were performed for patients with identified mutations. The clinical features were determined by complete ophthalmologic examinations.
  
  
  RESULTS
  The mutation detectable rate of the RP1 gene in Chinese patients with ADRP was 1/43. A missense mutation, N985Y, was identified in exon 4 of the RP1 gene in 8 affected individuals from a Chinese family with ADRP. The ophthalmic findings with an N985Y mutation were similar to those of typical retinitis pigmentosa with delayed onset after age 40 years and slow progression. In addition, a total of 9 distinct variants were detected in our study population, most of which were RP1 gene polymorphisms; the pathological significance of P903L, a novel missense mutation, was unconfirmed.
  
  
  CONCLUSIONS
  Mutations in the RP1 gene are relatively rare in Chinese patients with ADRP. In our cases, N985Y mutation segregated with the phenotype from 1 Chinese family with mild and late-onset ADRP, a finding that has not been documented in other races.
authors.affiliation: Department of Ophthalmology, The First Teaching Hospital, Ningxia Medical College, Ningxia, China. shengxunlun@163.com
authors.forename: Xunlun
authors.initials: X
authors.lastname: Sheng
authors.forename: Xinfang
authors.initials: X
authors.lastname: Zhang
authors.forename: Weimin
authors.initials: W
authors.lastname: Wu
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Zhuang
authors.forename: Ruihua
authors.initials: R
authors.lastname: Meng
authors.forename: Weining
authors.initials: W
authors.lastname: Rong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000208:ethnology; D002681:China / Q000453:epidemiology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D014792:Visual Acuity
chemical_list: D005136:Eye Proteins; D008869:Microtubule-Associated Proteins; C120042:RP1 protein, human