De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
Noomi MuellerTakayuki SassaSusanne Morales-GonzalezJoanna SchneiderDaniel J SalchowDominik SeelowEllen KnierimWerner StenzelAkio KiharaMarkus SchuelkePublished in: Journal of medical genetics (2018)
A dominant ELOVL1 mutation causes a neuro-ichthyotic disorder possibly amenable to treatment with PPAR-modulating drugs.