Article
Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.
Investigative ophthalmology & visual science - 3 Oct 2023
Gazit Inbal, Hecht Idan, Weiner Chen, Kotlyar Alina, Almer Zina, Bakshi Erez, Or Lior, Volkov Hadas, Feldman Barak, Maharshak Idit, Michelson Marina, Goldenberg-Cohen Nitza, Pras Eran
Abstract excerpt
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. Whole-exome sequencing (WES) and bioinformatic analysis were performed, followed by Sanger sequencing and segregation analysis....
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