Page 65 - GPD-1-1

Gene & Protein in Disease

CASE REPORT
A novel USH2A gene mutation in a family with

retinitis pigmentosa: A case report

Xuejiao Li , Haoliang Chen , Na Li , Junhui Wu 1,2,3 and Yalong Dang 1,2,3 *
1,2
1,2
1,2
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

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.
*Corresponding author:
Yalong Dang
(dangyalong@haust.edu.cn) Keywords: Gene mutation; Retinitis pigmentosa; USH2A
Citation: Li X, Chen H, Li N,
et al. 2022, A novel USH2A gene
mutation in a family with retinitis
pigmentosa: A case report. Gene 1. Background
Protein Dis, 1(1):106.
https://doi.org/10.36922/gpd.v1i1.106 Retinitis pigmentosa (RP), a progressive hereditary dystrophic, and degenerative eye disease,
[1]
Received: May 22, 2022 occur in approximately 1 in every 3000 – 7000 individuals . The earliest symptom of this
Accepted: June 21, 2022 disease is a night blindness, followed by progressive defect of the visual field, eventually
Published: June 28, 2022 decline in the central vision. This disease can be further subdivided into syndromic RP and
Copyright: © 2022 Author(s). non-syndromic RP, depending on whether there is defect in the hearing or not.
This is an Open Access article
distributed under the terms of the Usher syndrome, also known as hereditary deafness-RP syndrome, is the most
Creative Commons Attribution common type of syndromic RP, which is characterized by reduced visual field and visual
License, permitting distribution, [2]
and reproduction in any medium, impairment caused by congenital sensorineural hearing loss and progression of RP .
provided the original work is Usher syndrome can be further subdivided into three types according to the symptom
properly cited. severity: (i) type I that manifests as severe congenital hearing loss, vestibulo-ocular reflex
Publisher’s Note: AccScience loss, and RP onset during adolescence; (ii) type II that manifests as mild to moderate
Publishing remains neutral with congenital hearing loss and RP, without vestibular dysfunction; and (iii) type III (rare
regard to jurisdictional claims in [3]
published maps and institutional type) that manifests as progressive hearing loss and RP . Among them, the type II Usher
affiliations. syndrome is the most common type and is typically caused by mutations in the Usherin

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