Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

Eur J Med Genet. 2015 Apr;58(4):238-42. doi: 10.1016/j.ejmg.2015.01.011. Epub 2015 Feb 14.

Abstract

Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells. Less than 100 affected individuals have been reported worldwide, the majority from the Mediterranean and Middle-East countries, especially Turkey. We present clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provide a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. No major clinical differences exist between individuals with an N209X mutation and those with other mutations, which argues against a genotype/phenotype correlation.

Keywords: ABHD5/CGI-58 gene; Chanarin-Dorfman syndrome; Ichthyosis; Jordan anomaly.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Genetic Association Studies
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Infant
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / genetics*
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Turkey
  • Young Adult

Substances

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human

Supplementary concepts

  • Chanarin-Dorfman Syndrome