Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene |
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| Authors: | S. Moalem P. Brouillard D. Kuypers E. Legius E. Harvey G. Taylor M. Francois M. Vikkula D. Chitayat |
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| Affiliation: | 1. Department of Pediatrics, Division of Clinical and Metabolic GeneticsThe Hospital for Sick Children;2. Laboratory of Human Molecular Genetics;3. Department of Nephrology and Renal Transplantation, University Hospital Gasthuisberg, Leuven, Belgium;4. Department of Human Genetics, KU Leuven, University Hospitals Leuven, Leuven, Belgium;5. Department of Pediatrics, Division of NephrologyThe Hospital for Sick Children, University of Toronto;6. Department of Pediatrics, Division of Pathology and laboratory MedicineThe Hospital for Sick Children;7. The University of Queensland, St Lucia Campus, Brisbane, Australia;8. Walloon Excellence in Life Sciences and Biotechnology (WELBIO), de Duve Institute Université catholique de Louvain, Brussels, Belgium;9. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada |
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| Abstract: | ![]()
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C > A transversion, resulting in a pre‐mature truncation of the protein, lacking the transactivation domain. Both living patients developed renal failure with severe hypertension in childhood for which both underwent renal transplantation. To our best knowledge this is the first report of renal failure associated with heterozygous mutations in the SOX18 gene. We conclude that this specific mutation results in a new, autosomal dominant condition and propose the acronym HLT‐renal defect syndrome for HLTRS. |
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| Keywords: | HLTRS HLTS lymphatics lymphedema mosaicism renal failure SOX18 gene |
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