A new autosomal-recessive hypotrichosis syndrome

20 November 2018

Ellen van den Bogaard (first author), theme Inflammatory diseases, and Patrick Zeeuwen (last author), theme Infectious diseases and global health, report the first family with cystatin M/E deficiency in Genetics in Medicine.

Ellen van den Bogaard
Patrick Zeeuwen

Their previous genetic studies in mice and in vitro biochemical studies using human enzymes and inhibitors have provided information on the role of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in epidermal cornification and maintenance of hair follicle integrity. Recently they have identified a new autosomal-recessive hypotrichosis syndrome caused by a loss-of-function mutation in the CST6 gene. These findings support the importance of protease-antiprotease balance in the regulation of epidermal and hair follicle homeostasis.

This paper is freely available at: link.

 

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