title: A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
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.
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
authors.forename: Madiha
authors.initials: M
authors.lastname: Mohamed
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nair
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
authors.forename: Fatima
authors.initials: F
authors.lastname: Saif
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
authors.forename: Nafisa
authors.initials: N
authors.lastname: Tawfiq
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
authors.forename: Mahmoud Taleb
authors.initials: MT
authors.lastname: Al-Ali
authors.affiliation: Centogene AG, Schillingallee 68, Rostock 18057, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Brandau
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates. Electronic address: Abdul.hamzeh@hmaward.org.ae.
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D059472:Exome / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis; D007231:Infant, Newborn; D007597:Jordan; D008209:Lymphedema; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D055760:SOXF Transcription Factors / Q000235:genetics*; D013577:Syndrome; D013684:Telangiectasis
chemical_list: C095473:SOX18 protein, human; D055760:SOXF Transcription Factors
keywords: Alopecia totalis; Arab; Lymphedema; Sry-related HMG box