Hypotrichosis-lymphedema-telangiectasia syndrome

Definition:

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is an extremely rare lymphedema syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic vessels. SOX18 mutations are associated with both recessive and dominant HLTS.

References:

[1]. Florian Wünnemann, et al. Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome. Can J Cardiol. 2016 Jan;32(1):135.e1-7. [Content Brief]

[2]. Meredith Downes, et al. Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. Hum Mol Genet. 2009 Aug 1;18(15):2839-50. [Content Brief]

[3]. S Moalem, et al. Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet. 2015 Apr;87(4):378-82. [Content Brief]

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