Article
Genetics & Heredity
Wei Xu, Ming Xu, Qinqin Yin, Chuangyi Liu, Qiuxiang Cao, Yun Deng, Sulai Liu, Guiyun He
Summary: A novel missense variant in the TUB gene was identified as the pathogenic basis for autosomal recessive retinitis pigmentosa in a Chinese consanguineous family. This is the first report of its kind for RP.
BMC MEDICAL GENOMICS
(2023)
Article
Ophthalmology
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
Summary: A novel heterozygous nonsense mutation of RHO gene was identified in a Chinese family with retinitis pigmentosa through targeted region sequencing. Bioinformatics analysis indicated that the mutation is pathogenic, expanding the spectrum of RHO gene mutations and enriching the phenotype-genotype correlation of retinitis pigmentosa.
Article
Genetics & Heredity
Lujia Zhang, Ya Li, Litao Qin, Yu Wu, Bo Lei
Summary: This study identified disease-causing variants in three Chinese families with retinitis pigmentosa 77 using targeted next-generation sequencing, and evaluated the pathogenicity of the variants through computational predictions and in vitro experiments. Three novel variants in the REEP6 gene were found to be likely pathogenic, with c.268G>C variant detected in all probands. In cultured cells, the REEP6 variant proteins c.268G>C and c.468delC destabilized the REEP6 protein and induced intracellular inclusions, suggesting a recurrent causative variant in Chinese autosomal recessive retinitis pigmentosa patients.
Article
Ophthalmology
Nobia Aziz, Mukhtar Ullah, Abdur Rashid, Zubair Hussain, Khadim Shah, Azeem Awan, Muhammad Khan, Inam Ullah, Atta Ur Rehman
Summary: We identified a novel homozygous missense mutation (c.938C > T;p.Thr313Ile) in the PDE6B gene as the underlying cause of autosomal recessive retinitis pigmentosa (arRP) in a consanguineous Pakistani family. Our findings emphasize the importance of missense mutations in the PDE6B gene and expand the known mutational repertoire of PDE6B-related RP.
Article
Biochemistry & Molecular Biology
Chao Dai, Weiming Ren, Yao Wei, Chunbao Xie, Suyang Duan, Qi Li, Lingxi Jiang, Yi Shi
Summary: A novel compound heterozygote of the EYS gene was identified in a Chinese family with autosomal inheritance pattern of RP. The identified mutations were rare or absent in other databases and resulted in the loss of functionally important coding regions in the EYS gene. This study contributes to a better understanding of the molecular pathogenesis of RP and provides important implications for diagnosis, clinical management, and genetic counseling of the disease.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2023)
Article
Medicine, General & Internal
Yuanzheng Lan, Yuhong Chen, Yunsheng Qiao, Qingdan Xu, Ruyi Zhai, Xinghuai Sun, Jihong Wu, Xueli Chen
Summary: This study aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) in a Chinese family and investigate the molecular mechanisms of incomplete penetrance. Through whole-genome sequencing and RNA-seq analysis, a novel large deletion of a gene was identified in mutation carriers, leading to significant differential gene expression compared to healthy controls.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Tao Zhang, Jingshan Bai, Xinyi Zhang, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Yongsong Chen
Summary: This study identified a novel heterozygous SNRNP200(c.C6088T) mutation that causes retinitis pigmentosa through a dominant-negative effect.
FRONTIERS IN MEDICINE
(2021)
Article
Ophthalmology
Feng-Juan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Jian-Kang Li, Wei Liu, Sheng-Hai Zhang, Ge-Zhi Xu, Ji-Hong Wu
Summary: The study found that EYS-RD typically onset during adolescence and exhibits moderate variability in phenotype. This research significantly enhances our knowledge of the phenotypic and genotypic characteristics of EYS-RDS, paving the way for improved management of these patients.
Article
Genetics & Heredity
Hong-Li Liu, Feng-Guan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu
Summary: This study investigates the clinical and genetic characteristics of the RPGR gene in a Chinese cohort, expanding the known mutational spectrum and providing a new reference for genetic diagnosis of RPGR variants.
FRONTIERS IN GENETICS
(2022)
Article
Ophthalmology
Jui-En Lo, Chia-Yi Cheng, Chang-Hao Yang, Chung-May Yang, Yi-Chieh Chen, Yu-Shu Huang, Pei-Lung Chen, Ta-Ching Chen
Summary: This study investigated the genetic and clinical characteristics of EYS-associated retinitis pigmentosa (RP), finding that pericentral RP was the major phenotype and that the location of variants was significantly related to disease severity.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Jingliang Cheng, Qi Zhou, Jiewen Fu, Chunli Wei, Lianmei Zhang, Md Shamsuddin Sultan Khan, Hongbin Lv, Songyot Anuchapreeda, Junjiang Fu
Summary: In this study, novel compound heterozygous mutations of the CACNA2D4 gene were identified in a Chinese arRP pedigree, shedding light on its potential association with RP. The highly conserved nature of the CACNA2D4 protein across species suggests its crucial role in retinal functions and development.
Article
Cell Biology
Yanxia Huang, Lamei Yuan, Guiyun He, Yanna Cao, Xiong Deng, Hao Deng
Summary: This study identified novel compound heterozygous variants in the USH2A gene as the genetic causes of autosomal recessive RP in a Han-Chinese pedigree. The findings contribute to the understanding of the pathogenesis of USH2A-associated phenotypes and expand the spectrum of USH2A gene variants, providing insights for improved genetic counseling, prenatal diagnosis, and disease management.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Masroor Ellahi Babar, Akhtar Ali, Syed Hassan Abbas, Mirza Jawad Ul Hasnain, Nida Babar, Hira Babar, Tanveer Hussain, Asif Nadeem, Namra Ayub, Sundus Shahid, Muhammad Tariq Pervez
Summary: The study aimed to identify causative mutations in Pakistani families affected with arRP. Whole-exome sequencing revealed missense homozygous variants in PLCE1 and HPS1 genes in probands of two families, predicting these mutations as disease causing through molecular dynamic simulations. This study highlights the potential application of WES for rapid and precise molecular diagnosis of heterogeneous genetic diseases like RP.
IRANIAN JOURNAL OF PUBLIC HEALTH
(2022)
Article
Medicine, General & Internal
Faiza Habib, Muhammad Yasin, Areej Namal, Abrar Shaheryar, Areej Nasir, Abrar Hussain, Chinonso Ndubuisi, Hiba Azam, Muhammad Sajid, Arsalan Rasheed
Summary: This study focused on retinitis pigmentosa (RP) and identified mutations in the CRB1 and RP1 genes that are associated with the disease. The researchers used linkage analysis and sequencing techniques in two Pakistani families to uncover these genetic abnormalities.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Multidisciplinary Sciences
Dongju Won, Joo-Yeon Hwang, Yeeun Shim, Suk Ho Byeon, Junwon Lee, Christopher Seungkyu Lee, Min Kim, Hyun Taek Lim, Jong Rak Choi, Seung-Tae Lee, Jinu Han
Summary: MEIs are often missed due to exceeding read lengths of short-read sequencing technologies, but a grep search program was developed in this study to efficiently detect the RP1 Alu insertion. The Alu insertion in RP1 exon 4 was found to be a common founder mutation in Korean population.
SCIENTIFIC REPORTS
(2021)