title: Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
abstract: BACKGROUND
  Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. Fifty-three RP pathogenic genes are responsible for RP. Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of autosomal dominant retinitis pigmentosa (adRP), and so far more than 40 mutations in PRPF31 have been detected.
  
  
  OBJECTIVE
  To identify the underlying genetic defect in a five-generation Chinese family affected with adRP and to study the genotype-phenotype relationship of this family.
  
  
  METHODS
  Detailed clinical investigations were undertaken and peripheral blood samples were collected from 25 individuals. Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. Exons and adjacent splice junctions of the candidate gene were amplified and sequenced.
  
  
  RESULTS
  This adRP family exhibited an incomplete penetrance of the RP phenotype. In affected individuals, age of disease onset was from infancy to 4 years of age. Typical RP features were associated with this mutation. Linkage analysis identified a maximum two-point LOD score of 3.20 with D19S418, which is close to PRPF31. A mutation PRPF31: (c.358-359 del AA) was identified by linkage analysis.
  
  
  CONCLUSIONS
  A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.
authors.affiliation: Department of Ophthalmology, The Second Xiangya Hospital, Xiangya School of Medicine, Central South University , Changsha , P.R. China .
authors.forename: Yezhen
authors.initials: Y
authors.lastname: Yang
authors.forename: Di
authors.initials: D
authors.lastname: Tian
authors.forename: Janet
authors.initials: J
authors.lastname: Lee
authors.forename: Jing
authors.initials: J
authors.lastname: Zeng
authors.forename: Huiming
authors.initials: H
authors.lastname: Zhang
authors.forename: Siying
authors.initials: S
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Guo
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Xiong
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Jing
authors.initials: J
authors.lastname: Luo
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant / Q000235:genetics*; D056726:Genetic Association Studies; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C454222:PRPF31 protein, human
keywords: Deletion mutation; PRPF31 protein; polymerase chain reaction; reduced penetrance; retinitis pigmentosa