title: Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa.
abstract: An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
authors.affiliation: Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030.
authors.forename: Yun
authors.initials: Y
authors.lastname: Teng
authors.forename: Hong
authors.initials: H
authors.lastname: Tian
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Hu
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.forename: Zhenrong
authors.initials: Z
authors.lastname: Yang
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA