Publications by authors named "Fatima Alabdulrazzaq"
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Mol Genet Genomic Med
December 2023
Article Synopsis
- Very long-chain fatty acids (VLCFAs) are crucial for cell membrane formation in the brain, skin, and retina, with the ELOVL4 enzyme playing a key role in their elongation beyond 28 carbon atoms.
- The study involved clinical exome sequencing of individuals from four unrelated families with neuro-ichthyosis, leading to the discovery of three new ELOVL4 variants, including a significant exonic deletion found in two families from the same Saudi tribe.
- Findings indicated that most affected individuals experienced severe developmental issues and neurological symptoms, highlighting the genetic diversity related to ELOVL4 and suggesting the presence of a tribal founder mutation among the families studied.