title: [Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa].
abstract: OBJECTIVE
  To identify mutations in a four-generation Chinese family with retinitis pigmentosa and to investigate its clinical phenotype.
  
  
  METHODS
  Ophthalmic and electrophysiological examinations of patients with RP were performed. A genome-wide scan and linkage analysis were conducted in this family. Direct genomic sequencing was used to evaluate the candidate gene. A restriction assay was used to confirm the mutation status in this family, and to exclude it as a polymorphism in a reference population.
  
  
  RESULTS
  The mutation gene was mapped close to RP11 in chromosomal region 19q13.4 by linkage analysis. A novel single heterozygous base substitution (G > C) was detected at the beginning of intron 8 in the PRPF31 gene whereby the consensus GT dinucleotide of the intron 8 splice donor site was changed to CT. The mutation was co-segregated completely with the disease phenotype, but was absent in the unaffected relatives and in 100 reference subjects, thus supporting its pathogenic nature in this family. The clinical findings of RP patients were consistent with a relatively severe and diffuse type of RP.
  
  
  CONCLUSIONS
  A novel splice site mutation (IVS8 + 1G > C) in the PRPF31 gene caused retinitis pigmentosa in the four-generation Chinese RP family studied.
authors.affiliation: Tianjin Medical University, Tianjin 300074, China.
authors.forename: Sha-Sha
authors.initials: SS
authors.lastname: Lu
authors.forename: Chen
authors.initials: C
authors.lastname: Zhao
authors.forename: Yun
authors.initials: Y
authors.lastname: Cui
authors.forename: Ning-Dong
authors.initials: ND
authors.lastname: Li
authors.forename: Xiu-Mei
authors.initials: XM
authors.lastname: Zhang
authors.forename: Kan-Xing
authors.initials: KX
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C454222:PRPF31 protein, human; D022821:RNA Splice Sites