Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

• Published in: Clinical genetics Vol. 87; no. 4; pp. 378 - 382
• Main Authors: Moalem, S., Brouillard, P., Kuypers, D., Legius, E., Harvey, E., Taylor, G., Francois, M., Vikkula, M., Chitayat, D.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2015
• Subjects: Base Sequence; Belgium; Canada; Genetics; Heterozygote; HLTRS; HLTS; Humans; Hypotrichosis - genetics; Kidney - abnormalities; Kidney diseases; Kidney Transplantation; lymphatics; lymphedema; Lymphedema - genetics; Male; Molecular Sequence Data; mosaicism; Mutation; Point Mutation - genetics; renal failure; Sequence Analysis, DNA; SOX18 gene; SOXF Transcription Factors - genetics; Telangiectasis - genetics; Belgium; Canada; HLTS; lymphedema; mosaicism; renal failure; HLTRS; SOX18 gene; lymphatics

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 pat...