Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

J Dermatol Sci. 2014 Sep;75(3):199-201. doi: 10.1016/j.jdermsci.2014.05.009. Epub 2014 Jun 8.
No abstract available

Keywords: Dorfman-Chanarin syndrome; Genotype–phonotype correlation; Ichthyosis; Liver dysfunction; Mental retardation.

Publication types

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

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • Adult
  • Alternative Splicing
  • Brain / metabolism
  • DNA Mutational Analysis
  • Exons*
  • Homozygote
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis*
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Intellectual Disability / genetics
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Male
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics*
  • Mutation*
  • RNA / metabolism
  • RNA Splice Sites*
  • RNA, Messenger / metabolism

Substances

  • RNA Splice Sites
  • RNA, Messenger
  • RNA
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human

Supplementary concepts

  • Chanarin-Dorfman Syndrome