Clinical Science
Identification of novel compound heterozygous mutations of USH2A gene in a RP pedigree by targeted-capture next generation sequencing
Ying Wang, Hui Huang, Ning Fan, Jing Wu, Xiaomin Zhou, Yan Yin, Yun Wang, Xuyang Liu
Published 2016-03-10
Cite as Chin J Exp Ophthalmol, 2016, 34(3): 244-247. DOI: 10.3760/cma.j.issn.2095-0160.2016.03.011
Abstract
BackgroundRP is the term given to a set of hereditary retinal diseases.RP has groups of clinical characteristics and is a complex disease associated with distinct inheritance patterns.The screening and diagnosis of RP patients is of important significance for the future gene therapy.
ObjectiveThis study was to characterize the clinical features of a Chinese family with autosomal recessive RP and screen candidate genes.
MethodsAll members of the family underwent complete ophthalmologic examinations.Targeted-capture next generation sequencing (NGS) based molecular genetic analysis was performed on proband to detect mutation.Identified variations were verified in rest family members by PCR and Sanger sequencing.This study was approved by Ethic Committee of Shenzhen Eye Hospital, and written informed consent was obtained from patients prior to any medical examination.
ResultsProband was diagnosed as RP at 18 years old.His parents and child were asymptomatic.The compound heterozygous mutations in the USH2A gene were identified in the proband, which included c. 9958 G >T (p.Gly3320Cys) mutation and c. 11156 G>A (p.Arg3719His) mutation.The two mutations were inherited from his unaffected parents, respectively.
ConclusionsThe novel compound heterozygous c. 9958 G>T and c. 11156 G>A mutations of USH2A gene are identified as causative mutations of RP in this family.Targeted-capture NGS based eye disease chip can be vital for detecting known RP genes mutations quickly.Targeted-capture NGS can be a new applicable and efficient method for molecular genetic analysis of ocular disease.
Key words:
Retinitis pigmentosa; Gene; Eye disease chip; Autosomal recessive inheritance
Contributor Information
Ying Wang
Key Laboratory of Optoelectronic Devices and Systems of Ministry of Education and Guangdong Province, College of Optoelectronic Engineering, Shenzhen University.Shenzhen 518000, China
Hui Huang
Shenzhen Genomics Institute, Shenzhen 518000, China
Ning Fan
Shengzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Collgeg of Optometry, Shenzhen University, Shenzhen 518000, China
Jing Wu
Shenzhen Genomics Institute, Shenzhen 518000, China
Xiaomin Zhou
Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu 610041, China
Yan Yin
Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu 610041, China
Yun Wang
Shengzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Collgeg of Optometry, Shenzhen University, Shenzhen 518000, China
Xuyang Liu
Shengzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Collgeg of Optometry, Shenzhen University, Shenzhen 518000, China
