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Article

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.

Ophthalmic genetics - 1 Aug 2022

Mair Hailey, Fowler Nicholas, Papatzanaki Maria E, Sudhakar Padmaja, Maldonado Ramiro S

Abstract excerpt

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...

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Identifiers

PMID: 35450504
DOI: 10.1080/13816810.2022.2068038

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