AccScience Publishing / GPD / Volume 1 / Issue 1 / DOI: 10.36922/gpd.v1i1.106
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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. Licensee AccScience Publishing, Singapore. 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
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Conflict of interest
All authors have no conflicts of interest to declare.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Print ISSN: TBA, Published by AccScience Publishing