Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome. (4th July 2022)

• Record Type: Journal Article
• Authors: Mair, Hailey; Fowler, Nicholas; Papatzanaki, Maria E.; Sudhakar, Padmaja; Maldonado, Ramiro S.
• Is Part Of: Ophthalmic genetics. Volume 43:Number 4(2022)
• Page Start: 567
• Page End: 572
• Publication Date: 2022-07-04
• Subjects: Wolfram-like syndrome -- WFS1 -- atypical Wolfram-like syndrome -- Wolframin -- optic atrophy -- sensorineural hearing loss; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2022.2068038
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Background: 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. Conclusion: This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.