%0 Journal Article
%T Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
%A Mair H
%A Fowler N
%A Papatzanaki ME
%A Sudhakar P
%A Maldonado RS
%J Ophthalmic Genet
%V 43
%N 4
%D 08 2022
%M 35450504
%F 1.274
%R 10.1080/13816810.2022.2068038
%X 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.<BR>This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.