| Autor: |
Hailey, Mair, Nicholas, Fowler, Maria E, Papatzanaki, Padmaja, Sudhakar, Ramiro S, Maldonado |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Ophthalmic genetics. 43(4) |
| ISSN: |
1744-5094 |
| Popis: |
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 GT, 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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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