Mutation Identification in A 5-Generation Pedigree with Autosomal Dominant Retinitis Pigmentosa

• Published in: Current medical science Vol. 23; no. 3; pp. 242 - 244
• Main Author: 滕云 田虹 王慧 胡晓峰 王嵬 陈燕 杨真荣
• Format: Journal Article
• Language: English
• Published: China Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030%Centre for Human Genetics, Edith Cowan University, Perth, WA 6027, Australia 2003
• Subjects: DNA Mutational Analysis; Family Health; Female; Genes, Dominant - genetics; Humans; Male; Middle Aged; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Retinitis Pigmentosa - genetics; Sequence Analysis, DNA; 染色体显性遗传病; 色点; 视紫质基因; 视网膜炎; rhodopsin gene; autosomal dominant retinitis pigmentosa; mutation identification
• ISSN: 1672-0733; 2096-5230; 2523-899X
• DOI: 10.1007/bf02829503

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-bllndness, 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.