Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

The Journal of Investigative Dermatology
Nikolay V ZernovRena Zinchenko

Abstract

Hypotrichosis is an abnormal condition characterized by decreased hair density and various defects in hair structure and growth patterns. In particular, in woolly hair, hypotrichosis is characterized by a tightly curled structure and abnormal growth. In this study, we present a detailed comparative examination of individuals affected by autosomal-recessive hypotrichosis (ARH), which distinguishes two types of ARH. Earlier, we demonstrated that exon 4 deletion in the lipase H gene caused an ARH (hypotrichosis 7; MIM: 604379) in populations of the Volga-Ural region of Russia. Screening for this mutation in all affected individuals revealed its presence only in the group with the hypotrichosis 7 phenotype. Other patients formed a separate group of woolly hair-associated ARH, with a homozygous missense mutation c.712G>T (p.Val238Leu) in a highly conserved position of type I keratin KRT25 (K25). Haplotype analysis indicated a founder effect. An expression study in the HaCaT cell line demonstrated a deleterious effect of the p.Val238Leu mutation on the formation of keratin intermediate filaments. Hence, we have identified a previously unreported missense mutation in the KRT25 gene causing ARH with woolly hair.

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Citations

Aug 16, 2016·Journal of Dermatological Science·Yutaka Shimomura
Dec 27, 2019·International Journal of Dermatology·Hiroshi YoshidaKenji Hisada
Nov 21, 2019·The British Journal of Dermatology·A PeledE Sprecher
Apr 28, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Liron MalkiEli Sprecher
May 15, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·M Akiyama
Apr 8, 2020·Skin Appendage Disorders·Osama AlsharifAdnan Ahmed Kaki

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