Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
Department of Ophthalmology, Iassis Medical Center, Chania, Greece.
Ophthalmic Genet. 2022 Aug;43(4):567-572. doi: 10.1080/13816810.2022.2068038. Epub 2022 Apr 21.
In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and son with a WFS1 variant NM_006005.3:c.2508 G > T, p. (Lys836Asn) detected with next-generation sequencing, which is novel at the nucleotide level. In this Greek family, the proband and mother had sensorineural hearing loss and mild non-progressive vision loss with optic nerve atrophy. An initial optic atrophy panel that did not test for WFS1 was unremarkable, but a broader inherited retinal dystrophy panel found the WFS1 variant.
This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.
与经典的常染色体隐性遗传的 W olfram 综合征不同，W olfram 样综合征（W LS）是一种常染色体显性疾病，由 W FS1 基因的杂合变异引起。在这里，我们对一对母子进行了深度表型分析，他们携带的 W FS1 变异 NM_006005.3:c.2508 G > T，p.（Lys836Asn），这是核苷酸水平上的新型变异。在这个希腊家庭中，先证者和母亲有感觉神经性听力损失和轻度进行性视力丧失伴视神经萎缩。最初的视神经萎缩面板未检测到 W FS1，但更广泛的遗传性视网膜营养不良面板发现了 W FS1 变异。
本研究强调了在评估视神经萎缩时将 W FS1 测序纳入评估的重要性，以发现综合征性疾病。
