Novel WDR45 gene variants are associated with X-linked optic atrophy.
Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.
Inbal Gazit … Eran Pras
Investigative ophthalmology & visual science · Oct 2023
Purpose
To describe clinical and molecular findings of two families with X-linked optic atrophy and present two new pathogenic variants in the WDR45 gene.
Methods
Case series and molecular analysis of two families of Jewish Ashkenazi descent with early onset bilateral optic atrophy.
More results
In both families, male siblings (three in family 1, two in family 2) had early-onset isolated bilateral optic atrophy.
Analysis revealed a point variant in the WDR45 gene-a missense variant in the first family, NM_001029896.2:c.107C>A; NP_001025067.1:p.
More results
Pro36His (variant ID: 1704205), and a splice site variant in the second family, NM_001029896.2:c.236-1G>T; NP_009006.2:p.
Val80Leu (variant ID: 1704204), located on Xp11.23 (OPA2 locus).
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Conclusion · 1 of 3
Among two families with isolated X-linked optic atrophy, molecular analysis revealed novel variants in the WDR45 gene in full segregation with the disease.
Conclusion · 2 of 3
This gene resides within the OPA2 locus, previously described to associate with X-linked optic atrophy.
Conclusion · 3 of 3
Taken together, these findings suggest that certain pathogenic variants in the WDR45 gene are associated with isolated X-linked optic atrophy.
