title: Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.
abstract: Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical College, The State Key Laboratory Cultivation Base, No. 270, West Xueyuan Road, Wenzhou 325027, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong.
authors.forename: Lijia
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong.
authors.forename: Oi Sin
authors.initials: OS
authors.lastname: Tam
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical College, The State Key Laboratory Cultivation Base, No. 270, West Xueyuan Road, Wenzhou 325027, China.
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Huang
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong.
authors.forename: Chi-Pui
authors.initials: CP
authors.lastname: Pang
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical College, The State Key Laboratory Cultivation Base, No. 270, West Xueyuan Road, Wenzhou 325027, China.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
mesh_terms: D000328:Adult; D044466:Asian People; D059472:Exome / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D012243:Rhodopsin
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