Shujin Li1,2,3, Mu Yang1,2,3, Wenjing Liu2, Yuqing Liu2, Lin Zhang2, Yeming Yang2, Periasamy Sundaresan4, Zhenglin Yang1,2, Xianjun Zhu2,5,6. 1. 1 Chengdu Institute of Biology , Chinese Academy of Sciences, Chengdu, P.R. China . 2. 2 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China , Chengdu, Sichuan, P.R. China . 3. 3 University of Chinese Academy of Sciences , Beijing, P.R. China . 4. 4 Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital , Madurai, Tamilnadu, India . 5. 5 Institute of Laboratory Animal Sciences , Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, P.R. China . 6. 6 Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan Translational Medicine Research Hospital , Chengdu, Sichuan, P.R. China .
Abstract
BACKGROUND: Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities. AIMS: To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP. MATERIALS AND METHODS: A total of 163 genes, which have previously been found to be involved in inherited retinal disorders, were selected for targeted next-generation sequencing (NGS). Stringent NGS data analyses followed by confirmation using Sanger sequencing and segregation analyses were applied to evaluate all identified pathogenic mutations. RESULTS: Four novel frameshift mutations and two compound heterozygous mutations were identified in RP1. In addition, all mutations were found to co-segregate with the disease in the three familial cases; none of the mutations were detected in control samples. CONCLUSION: This study expands the mutational spectrums of RP1 for RP.
BACKGROUND:Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities. AIMS: To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP. MATERIALS AND METHODS: A total of 163 genes, which have previously been found to be involved in inherited retinal disorders, were selected for targeted next-generation sequencing (NGS). Stringent NGS data analyses followed by confirmation using Sanger sequencing and segregation analyses were applied to evaluate all identified pathogenic mutations. RESULTS: Four novel frameshift mutations and two compound heterozygous mutations were identified in RP1. In addition, all mutations were found to co-segregate with the disease in the three familial cases; none of the mutations were detected in control samples. CONCLUSION: This study expands the mutational spectrums of RP1 for RP.