X-linked and autosomal dominant forms of the ichthyosis in coinheritance

Drug Metab Pers Ther. 2019 Dec 18;34(4):/j/dmdi.2019.34.issue-4/dmpt-2019-0008/dmpt-2019-0008.xml. doi: 10.1515/dmpt-2019-0008.

Abstract

According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1/2000-6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250-1000). The X-linked form is associated with mutations in steroid sulfatase STS gene, it is noteworthy that there is a full deletion of the gene in 90% of cases. Ichthyosis vulgaris is caused by heterozygous mutations in the FLG gene encoding filaggrin. It is important to note that the clinical forms of these diseases are indistinguishable. The aim of this study was to search for pathogenic or likely pathogenic mutations which are associated with various forms of the inherited ichthyosis such as other inherited diseases with similar phenotypic signs. The sequencing was done on a HiSeq 4000 sequencer (Illumina) by paired-end reading (2 × 150 bp). The identified mutation p.Arg2037Ter in the heterozygous condition has been described before in databases as being pathogenic. Also, our patient has a full deletion of the STS gene and it was found that our patient carries two pathogenic mutations which are related to different forms of the inherited ichthyosis.

Keywords: Ichthyosis; inherited diseases; next generation sequencing (NGS); skin diseases.

Publication types

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

MeSH terms

  • Adult
  • Chromosomes, Human, X / genetics*
  • Filaggrin Proteins
  • Genes, Dominant / genetics*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Testing
  • Humans
  • Ichthyosis Vulgaris / diagnosis
  • Ichthyosis Vulgaris / genetics*
  • Male
  • Mutation