AccScience Publishing / GPD / Volume 1 / Issue 1 / DOI: 10.36922/gpd.v1i1.106
CASE REPORT

A novel USH2A gene mutation in a family with retinitis pigmentosa: A case report

Xuejiao Li1,2 Haoliang Chen1,2 Na Li1,2 Junhui Wu1,2,3 Yalong Dang1,2,3*
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1 Department of Ophthalmology, Sanmenxia Central Hospital, Henan University of Science and Technology, Sanmenxia, Henan, China
2 Department of Ophthalmology, Sanmenxia Eye Hospital, Sanmenxia, Henan, China
3 Department of Ophthalmology, Henan University of Science and Technology School of Medicine, Luoyang, Henan, China
Submitted: 22 May 2022 | Accepted: 21 June 2022 | Published: 28 June 2022
© 2022 by the Authors. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
Abstract

We report a novel variant of the USH2A gene in a family affected by retinitis pigmentosa (RP). Genomic DNA was obtained from a 55-year-old woman (the proband) with night blindness who was diagnosed with non-syndromic RP. We identified the compound heterozygous variants c.8559-2A>G and c.151A>T (p.Ile51Phe) in the USH2A gene as the underlying cause in the proband; the former variant, instead of the latter variant, has been reported in the literature. The proband’s mother carried the c.151A>T variant, while her father and daughter carried the c.8559-2A>G variant. In this family, the proband and her mother developed RP; however, her father and daughter did not develop the disease. Although in silico tools predicted that c.151A>T is benign, segregation analysis suggested that this variant could be potentially harmful. The identification of c.151A>T (p.Ile51Phe) variant is a novel finding, and this variant might be a potentially harmful variant of USH2A gene. This finding also further expands the mutation spectrum of this gene in the Chinese population.

Keywords
Gene mutation
Retinitis pigmentosa
USH2A
Conflict of interest
All authors have no conflicts of interest to declare.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing