Hereditary cataract associated with a novel variant in WFS1.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2026-04-15 DOI:10.1080/13816810.2026.2655886

Bernardo Przysiezny, Thais de Melo Baccega, Erásio de Grácia Neto, Hussein Hassan Khalil, Lucas Ferreira Cordeiro, Felipe Marques de Carvalho Taguchi, Mariana Matioli da Palma

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引用次数: 0

Abstract

Background: This study describes clinical and genetic findings of a Brazilian four-generation family with hereditary cataracts.

Materials and methods: In a large family comprising 31 members, 14 individuals were identified as being affected with hereditary cataracts. Next-generation sequence was undertaken in one affected individual, and subsequent segregation analysis was conducted on his affected sister.

Results: The proband presented with bilateral lamellar cataracts, while his sister had cerulean cataracts. A heterozygous variant, c.988_993del (p.Phe330_Phe331del), in the WFS1 gene was identified. This variant is absent at ClinVar and gnomAD databases and has not been previously reported.

Conclusion: The indel variant in WFS1 was associated with a non-syndromic cataract in our Brazilian family. Further studies are necessary to elucidate the pathogenicity of this variant.

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遗传性白内障与WFS1的新变异相关。

背景：本研究描述了一个巴西四代家族遗传性白内障的临床和遗传学发现。材料和方法：在一个由31个成员组成的大家庭中，有14人被确定为遗传性白内障。对一名患者进行了下一代测序，随后对其患病姐妹进行了分离分析。结果：先证者为双侧板层性白内障，其姊妹为青色性白内障。在WFS1基因中发现了一个杂合变异体c.988_993del （p.Phe330_Phe331del）。这种变体在ClinVar和gnomAD数据库中不存在，以前也没有报道过。结论：WFS1的indel变异与我们巴西家族的非综合征性白内障有关。需要进一步的研究来阐明该变异的致病性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.