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Eye (Lond). 2018 Oct;32(10):1608-1614. doi: 10.1038/s41433-018-0130-3. Epub 2018 Jun 13.

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Huang L1,2,3, Mao Y4, Yang J4, Li Y4, Li Y5, Yang Z6,7,8.

Author information

1
Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan, 610072, China. huangluling@yeah.net.
2
Institute of Chengdu Biology, and Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China. huangluling@yeah.net.
3
Center of Information in Biomedicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. huangluling@yeah.net.
4
Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan, 610072, China.
5
Department of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
6
Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan, 610072, China. zliny@yahoo.com.
7
Institute of Chengdu Biology, and Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China. zliny@yahoo.com.
8
Center of Information in Biomedicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. zliny@yahoo.com.

Abstract

OBJECTIVES:

USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families.

METHODS:

We performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort.

RESULTS:

We identified a total of eight mutations in four of the 75 small RP families (5.3%) and two mutations in one of the 10 Usher families (10%); all families were detected to have compound heterozygous mutations. In families with nonsyndromic RP, we identified the compound heterozygous mutations p.Pro4818Leuand p.Leu2395Hisfs*19 in family No. 19114, p.Arg4493His and p.His1677Glnfs*15 in family No.19162, c.8559-2A > G and p.Arg1549* in family No.19123 and p.Ser5060Pro and p.Arg34Leufs*41 in family No.19178. We also identified the heterozygous mutations p.Arg3719His and p.Cys934Trp in family No.19124, which was the Usher syndrome family. These mutations were predicted to be harmful by SIFT, PROVEAN, Mutation Taster or PolyPhen-2.

CONCLUSIONS:

Our results revealed six novel mutations in the USH2A gene in a Chinese population, which is beneficial for the clinical use of genetic testing of USH2A in patients with autosomal-recessive or sporadic RP and Usher syndrome.

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