Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis

J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5.


Background: Woolly hair (WH) belongs to a family of disorders characterized by hair shaft anomalies that clinically presents with tightly curled hair, which can be divided into syndromic and non-syndromic forms of WH. We have recently identified mutations in both LPAR6/P2RY5 and LIPH that are associated with autosomal recessive woolly hair (ARWH).

Objective: To study the underlying genetic causes of autosomal woolly hair in Pakistani population.

Methods: We studied 10 Pakistani families with ARWH for mutations in LPAR6/P2RY5 and LIPH and then performed haplotype analysis to confirm their segregation in the families.

Results: We identified five mutations in LPAR6/P2RY5, among which three were recurrent and two were novel in eight Pakistani families. We then showed that two of the mutations in LPAR6/P2RY5 are founder mutations in Pakistani families. Moreover, we identified two recurrent mutations in the LIPH gene in two Pakistani families.

Conclusion: Our study extends the spectrum of mutations in LPAR6/P2RY5 gene and underscores those mutations in LPAR6/P2RY5 and LIPH result in similar phenotypes.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Female
  • Hair Diseases / genetics*
  • Haplotypes
  • Humans
  • Hypotrichosis / genetics*
  • Lipase / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Receptors, Lysophosphatidic Acid / genetics*
  • Receptors, Purinergic P2 / genetics*


  • LIPC protein, human
  • LPAR4 protein, human
  • LPAR6 protein, human
  • Receptors, Lysophosphatidic Acid
  • Receptors, Purinergic P2
  • Lipase