Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

Coulie Richard; Niyazov Dmitriy M.; Gambello Michael J.; Fastre Elodie; Brouillard Pascal; Vikkula Miikka

首页> 外文期刊>American journal of medical genetics, Part A >Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

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Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

机译：Hypotrichosis-Lympheedema-Telanciectasia综合征：髂骨闭锁的报告与SOX18 de Novo致病变异相关，并对表型谱进行审查

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Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition caused by pathogenic variants in the SOX18 gene. SOX18 plays a key role in angio- and lymphangiogenesis due to its expression in venous endothelial cells from which the lymphatic system develops. It is also expressed in embryonic hair follicles, heart, and vascular smooth muscle cells. The main clinical symptoms of HLTS include sparse hair, alopecia totalis, lymphedema, most often affecting lower limbs, and telangiectatic lesions. Only 10 patients with a SOX18 pathogenic variant have been described that presented with additional features such as hydrocele, renal failure, arterial or pulmonary hypertension, aortic dilatation, and facial dysmorphism. Here, we summarize these phenotypic variations and report an additional HLTS patient, with a 14-nucleotide de novo duplication in SOX18 and congenital ileal atresia, a feature not previously associated with HLTS.

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来源
《American journal of medical genetics, Part A》 |2021年第7期|共7页
作者
Coulie Richard; Niyazov Dmitriy M.; Gambello Michael J.; Fastre Elodie; Brouillard Pascal; Vikkula Miikka;
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作者单位

Univ Louvain Human Mol Genet Duve Inst Ave Hippocrate 74 5 Bp 75-39 B-1200 Brussels Belgium;

Ochsner Hlth Syst Sect Med Genet New Orleans LA USA;

Emory Univ Dept Human Genet Sch Med Atlanta GA USA;

Univ Louvain Human Mol Genet Duve Inst Ave Hippocrate 74 5 Bp 75-39 B-1200 Brussels Belgium;

Univ Louvain Human Mol Genet Duve Inst Ave Hippocrate 74 5 Bp 75-39 B-1200 Brussels Belgium;

Univ Louvain Human Mol Genet Duve Inst Ave Hippocrate 74 5 Bp 75-39 B-1200 Brussels Belgium;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
genetic; HLTRS; HLTS; lymphangiogenesis; phenotype; transcription factor;

机译：遗传;HLTRS;HLTS;淋巴管生成;表型;转录因子;

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Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

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