Dolichol kinase deficiency (DOLK ‐CDG): Two new cases and expansion of phenotype

We report two female siblings with novel compound heterozygous mutations in DOLK: c.951C>A (p.Tyr317Ter) and c.1558A>G (p.Thr520Ala). Both patients presented in the neonatal period with severe ichthyosis, unusual distal digital constrictions and dilated cardiomyopathy which resulted in death. Histology of the skin showed lipid droplet accumulation in the stratum corneum and keratinocytes, which suggests defective epidermal lipid metabolism. These patients represent an earlier and more severe form of DOLK‐CDG (CDG‐1m) with a striking presentation at birth that expands the known phenotypic spectrum.

Source: American Journal of Medical Genetics Part A - August 17, 2017 Category: Genetics & Stem Cells Authors: Eric T. Rush, Craig V. Baker, William B. Rizzo Tags: ORIGINAL ARTICLE Source Type: research