title: Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
abstract: Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retinitis pigmentosa (arRP) families and 100 Indian sporadic RP cases. Whole-exome sequencing (WES) was performed on the probands of the arRP families and sporadic RP patients, and direct Sanger sequencing was used to confirm the causal mutations identified by WES. We found that the mutations of EYS are likely pathogenic mutations in two arRP families and eight sporadic patients. Specifically, we found a novel pair of compound heterozygous mutations and a novel homozygous mutation in two separate arRP families, and found two novel heterozygous mutations in two sporadic RP patients, whereas we found six novel homozygous mutations in six sporadic RP patients. Of these, one was a frameshift mutation, two were stop-gain mutations, one was a splicing mutation, and the others were missense mutations. In conclusion, our findings expand the spectrum of EYS mutations in RP in the Indian population and provide further support for the role of EYS in the pathogenesis and clinical diagnosis of RP.
authors.affiliation: Department of Laboratory Medicine, Chongqing Medical University, Chongqing, China.|Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Yanan
authors.initials: Y
authors.lastname: Di
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Lulin
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Shujin
authors.initials: S
authors.lastname: Li
authors.affiliation: Retina-Vitreous Services, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
authors.forename: Ramasamy
authors.initials: R
authors.lastname: Kim
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
authors.forename: Bibhuti
authors.initials: B
authors.lastname: Ballav Saikia
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Zhu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Zhilin
authors.initials: Z
authors.lastname: Jiang
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Dingding
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Yuanfen
authors.initials: Y
authors.lastname: Li
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Houbin
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Laboratory Medicine, Chongqing Medical University, Chongqing, China.
authors.forename: Yibing
authors.initials: Y
authors.lastname: Yin
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Xianjun
authors.initials: X
authors.lastname: Zhu
authors.affiliation: Department of Laboratory Medicine, Chongqing Medical University, Chongqing, China.|Sichuan Provincial Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.|Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019295:Computational Biology / Q000379:methods; D004252:DNA Mutational Analysis; D059472:Exome; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007194:India; D008297:Male; D058977:Molecular Sequence Annotation; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D044465:White People / Q000235:genetics*
chemical_list: C533105:EYS protein, human; D005136:Eye Proteins