title: Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
abstract: Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 50 genes. To identify genetic mutations underlying autosomal recessive RP (arRP), we performed whole-exome sequencing study on two consanguineous marriage Indian families (RP-252 and RP-182) and 100 sporadic RP patients. Here we reported novel mutation in FAM161A in RP-252 and RP-182 with two patients affected with RP in each family. The FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. By whole-exome sequencing we identified several homozygous genomic regions, one of which included the recently identified FAM161A gene mutated in RP28-linked arRP. Sequencing analysis revealed the presence of a novel homozygous frameshift mutation p.R592FsX2 in both patients of family RP-252 and family RP-182. In 100 sporadic Indian RP patients, this novel homozygous frameshift mutation p.R592FsX2 was identified in one sporadic patient ARRP-S-I-46 by whole-exome sequencing and validated by Sanger sequencing. Meanwhile, this homozygous frameshift mutation was absent in 1000 ethnicity-matched control samples screened by direct Sanger sequencing. In conclusion, we identified a novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.|Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.|Key Laboratory for NeuroInformation of Ministry of Education University of Electronic Science and Technology of China, Sichuan, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Tamilnadu, India.
authors.forename: Bibhuti B
authors.initials: BB
authors.lastname: Saikia
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Zhilin
authors.initials: Z
authors.lastname: Jiang
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.|Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Zhu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.
authors.forename: Yuqing
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.|Key Laboratory for NeuroInformation of Ministry of Education University of Electronic Science and Technology of China, Sichuan, China.
authors.forename: Lulin
authors.initials: L
authors.lastname: Huang
authors.affiliation: Retina-Vitreous Services, Aravind Eye Hospital, Tamilnadu, India.
authors.forename: Ramasamy
authors.initials: R
authors.lastname: Kim
authors.affiliation: Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Yin
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Hao
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.
authors.forename: Zhengfu
authors.initials: Z
authors.lastname: Tai
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Laboratory Animal Institute, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Lihong
authors.initials: L
authors.lastname: Niu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.|Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.|Key Laboratory for NeuroInformation of Ministry of Education University of Electronic Science and Technology of China, Sichuan, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Tamilnadu, India.
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.|Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.|Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.|Key Laboratory for NeuroInformation of Ministry of Education University of Electronic Science and Technology of China, Sichuan, China.
authors.forename: Xianjun
authors.initials: X
authors.lastname: Zhu
mesh_terms: D059472:Exome; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D055106:Genome-Wide Association Study; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C552553:FAM161A protein, human