Conflict of interest None declared.
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis
Article first published online: 5 MAR 2012
© 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology
Volume 27, Issue 5, pages 545–549, May 2013
How to Cite
Kurban, M., Wajid, M., Shimomura, Y. and Christiano, A.M. (2013), Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. Journal of the European Academy of Dermatology and Venereology, 27: 545–549. doi: 10.1111/j.1468-3083.2012.04472.x
Funding sources National Institute of Health.
- Issue published online: 10 APR 2013
- Article first published online: 5 MAR 2012
- Received: 31 August 2011; Accepted: 24 January 2012
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.