Article
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Molecular genetics & genomic medicine - 1 Dec 2023
Alabdulrazzaq Fatima, Alanzi Talal, Al-Balool Haya H, Gardham Alice, Wakeling Emma, Leitch Harry G, AlSayed Moeenaldeen, Abdulrahim Maha, Aladwani Abdulaziz, Romito Antonio, Kampe Kapil, Ferdinandusse Sacha, Aboelanine Ashraf H, Abdullah Amira, Alwadani Amal, Bastaki Laila, Vaz Frédéric M, Bertoli-Avella Aida M, Marafi Dana
Abstract excerpt
BACKGROUND: Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive...
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