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

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

  • J Invest Dermatol. 2016 Jun;136(6):1097-1105. doi: 10.1016/j.jid.2016.01.037.
Nikolay V Zernov 1,  Mikhail Y Skoblov 2,  Andrey V Marakhonov 3,  Yutaka Shimomura 4,  Tatyana A Vasilyeva 5,  Fedor A Konovalov 3,  Anna V Abrukova 6,  Rena A Zinchenko 7
Affiliations

Affiliations

  • 1 Federal State Budgetary Institution "Research Centre for Medical Genetics," Moscow, Russia. Electronic address: [email protected].
  • 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.
PMID: 26902920 DOI: 10.1016/j.jid.2016.01.037
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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