De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, and hypomyelination with lower extremity spastic paraplegia, high frequency deafness, and tunnel vision.

We have compared the transcriptome of cultured human fibroblasts from 2 patientes with a mutation in the ELOVL1 gene with the transcriptome of four healthy age-matched controls. RNA-Seq transcriptome analysis of 2 patients and of 4 controls with a sequencing depth of >60 Mio reads.