Abstract：
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.
This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.
摘要：
与经典的常染色体隐性Wolfram综合征相反，Wolfram样综合征（WLS）是由WFS1基因中的杂合变体引起的常染色体显性疾病。这里,我们提出了具有WFS1变体NM_006005.3：c.2508G>T的母子的深层表型，p。（Lys836Asn）用下一代测序检测到，这在核苷酸水平上是新颖的。在这个希腊家庭，先证者和母亲有感音神经性听力损失和轻度非进行性视力丧失伴视神经萎缩.未测试WFS1的初始视神经萎缩面板不明显，但更广泛的遗传性视网膜营养不良小组发现了WFS1变异。
这项研究强调了在视神经萎缩评估中纳入WFS1测序以发现综合征的重要性。
这项研究强调了在视神经萎缩评估中纳入WFS1测序以发现综合征的重要性。
