A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing

Molecular and Cellular Probes 30 (2016)

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.


  • Fatma Bastaki , MD
  • Madiha Mohamed , MD
  • Pratibha Nair
  • Fatima Saif , MD
  • Nafisa Tawfiq
  • Mahmoud Taleb Al-Ali , PhD
  • Oliver Brandau , MD
  • Abdul Rezzak Hamzeh , PhD