Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

ABSTRACT:

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 disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (ISQMR). Only seven subjects from five unrelated families with ISQMR have been described, all of which have biallelic single-nucleotide variants.

Methods

We performed clinical exome sequencing on probands from four unrelated families with neuro-ichthyosis.

Results

We ident

SUBMITTER: Alabdulrazzaq F 

PROVIDER: S-EPMC10724518 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature