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J Invest Dermatol. 2016 Jun;136(6):1097-105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20.

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

Author information

1
Federal State Budgetary Institution "Research Centre for Medical Genetics," Moscow, Russia. Electronic address: nzernov01@gmail.com.
2
Federal State Budgetary Institution "Research Centre for Medical Genetics," Moscow, Russia; The Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russia.
3
Federal State Budgetary Institution "Research Centre for Medical Genetics," Moscow, Russia; Regenerative and Genetic Medical Center of the Human Stem Cells Institute, Moscow, Russia.
4
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
5
Federal State Budgetary Institution "Research Centre for Medical Genetics," Moscow, Russia.
6
Ministry of Health and Social Development of Chuvash Republic, Presidential Perinatal Center, Chuvash Republic, Cheboksary, Russia.
7
Federal State Budgetary Institution "Research Centre for Medical Genetics," Moscow, Russia; Pirogov Russian National Research Medical University, Moscow, Russia; Moscow State University of Medicine and Dentistry, Moscow, Russia.

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.

PMID:
26902920
DOI:
10.1016/j.jid.2016.01.037
[Indexed for MEDLINE]
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