Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10957665 | Molecular and Cellular Probes | 2016 | 4 Pages |
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.
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Authors
Fatma Bastaki, Madiha Mohamed, Pratibha Nair, Fatima Saif, Nafisa Tawfiq, Mahmoud Taleb Al-Ali, Oliver Brandau, Abdul Rezzak Hamzeh,