Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

J Dermatol Sci. 2016 Feb;81(2):134-6. doi: 10.1016/j.jdermsci.2015.10.015. Epub 2015 Oct 27.
No abstract available

Keywords: ABHD5; Dorfman-Chanarin syndrome.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • Child
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis
  • Ichthyosiform Erythroderma, Congenital / enzymology
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Phenotype
  • Severity of Illness Index

Substances

  • Codon, Nonsense
  • Genetic Markers
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human

Supplementary concepts

  • Chanarin-Dorfman Syndrome