799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy

Via exome sequencing of a cohort with genetically unsolved keratinization disorders, we discovered four subjects compound heterozygous for damaging mutations in KDSR (3-ketodihydrosphingosine reductase), an enzyme in the ceramide synthesis pathway. All four subjects are consistent for a previously undescribed recessive skin disorder featuring severe scale on face and genitals and thickened red palmoplantar skin. At least one of the pathogenic mutations in each subject was elusive. Three subjects are heterozygous for a silent third base change, which was shown via cDNA sequencing to cause exon skipping.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research