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

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

Fatma Bastaki, MD 1 Madiha Mohamed, MD 1 Pratibha Nair 2 Fatima Saif, MD 1 Nafisa Tawfiq 1 Mahmoud Taleb Al-Ali, PhD 2 Oliver Brandau, MD 3 Abdul Rezzak Hamzeh, PhD 2
1 Latifa Hospital Dubai 2 Centre for Arab Genomic Studies Dubai 3 CENTOGENE AG
November 26, 2015

Molecular and Cellular Probes 30 (2016)
doi:10.1016/j.mcp.2015.11.005

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.