Hereditary cataract associated with a <i>novel</i> variant in <i>WFS1</i>

This study describes clinical and genetic findings of a Brazilian four-generation family with hereditary cataracts. 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. 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. 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.本研究报道了一个巴西四代遗传性白内障家系的临床与遗传学特征。 该家系共计31名成员，其中14名个体被确诊患有遗传性白内障。 研究人员对1名受累个体实施了下一代测序（next-generation sequencing），随后对其受累姐妹开展了共分离分析。 先证者（proband）表现为双侧板层白内障，其姐妹则患有蓝灰色白内障。 研究人员在WFS1基因中检出一处杂合变异：c.988_993del（p.Phe330_Phe331del）。该变异未收录于ClinVar与gnomAD数据库，且此前未见相关报道。 本研究中的巴西家系内，WFS1基因的插入缺失（indel）变异与非综合征性白内障存在关联。未来仍需开展进一步研究以阐明该变异的致病性。