Woolly hair

Definition:

Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly hair can also show varying degrees of sparse hair or hypotrichosis (HYPT).

References:

[1]. Muhammad Ansar, et al. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 2015 Oct;52(10):676-80. [Content Brief]

[2]. W H Irwin McLean, et al. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. [Content Brief]

[3]. Yutaka Shimomura, et al. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet. 2010 Apr 9;86(4):632-8. [Content Brief]

[4]. Yutaka Shimomura, et al. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet. 2008 Mar;40(3):335-9. [Content Brief]

[5]. Yutaka Shimomura, et al. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Mar;129(3):622-8. [Content Brief]

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