A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing

Mol Cell Probes. 2016 Feb;30(1):18-21. doi: 10.1016/j.mcp.2015.11.005. Epub 2015 Nov 26.

Abstract

The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing. In this case, a frameshift caused by 14-nucleotide duplication in SOX18 appeared de novo resulting in a premature translational stop at the N-terminal region of the central trans-activation domain. Here we present the clinical manifestations of the above mentioned molecular lesion in the light of what is known from published SOX18 mutations.

Keywords: Alopecia totalis; Arab; Lymphedema; Sry-related HMG box.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • DNA Mutational Analysis / methods*
  • Exome / genetics*
  • Humans
  • Hypotrichosis*
  • Infant, Newborn
  • Jordan
  • Lymphedema*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • SOXF Transcription Factors / genetics*
  • Syndrome
  • Telangiectasis*

Substances

  • SOX18 protein, human
  • SOXF Transcription Factors