BIOMAT Database Logo BIOMAT Database Logo

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa. 2016

Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang 325027 China.

Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation sequencing (CNGS) of 144 genes associated with retinal diseases, we identified eight novel DNA variants; however, none of them cosegregated for all the members of the family. Further analysis of the CNGS data led to identification of a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene, which cosegregated with all affected individuals in the family and was not observed in any of the unaffected family members. The p.R135W mutation has a reference single nucleotide polymorphism (SNP) ID (rs104893775), and it appears to be responsible for the disease in this large family. This study highlights the importance of examining NGS data with reference SNP IDs. Thus, our study is important for data analysis of NGS-based clinical genetic diagnoses.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005190 Family A social group consisting of parents or parent substitutes and children. Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

Related Publications

Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.
December 1991, Ophthalmology,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.
January 1998, Human mutation,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
[A Chinese family with autosomal dominant retinitis pigmentosa and a pro347Leu rhodopsin gene mutation].
June 2000, Chinese medical journal,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
September 2001, Ophthalmic genetics,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
[A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa].
April 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
[Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].
February 1996, Medicina clinica,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.
September 1992, Journal of medical genetics,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.
December 1996, Ophthalmic genetics,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.
January 1996, Human mutation,
Xinping Yu, and Wei Shi, and Lulu Cheng, and Yanfang Wang, and Ding Chen, and Xuting Hu, and Jinling Xu, and Limin Xu, and Yaming Wu, and Jia Qu, and Feng Gu
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.
November 2019, International ophthalmology,
Copied contents to your clipboard!