A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.

S Nahum, F Morice-Picard, A Taieb, E Sprecher

Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

Clinical and experimental dermatology 2011 Mar

filter terms:

Autosomal recessive hypotrichosis simplex (ARHS) presents with progressive hair loss mainly affecting the scalp area. In a small number of families, the condition has been associated with mutations in three distinct genes: DSG4, LIPH and LPAR6. To identify the molecular basis of ARHS in a consanguineous family of Turkish extraction. We used a combination of microsatellite marker screening and direct sequencing. We identified a novel missense mutation (c.C587T) in the human LPAR6 gene, resulting in the amino acid substitution p.P196L. The mutation affects a highly conserved amino acid residue, and is predicted to disrupt signalling through the P2Y5 receptor. This study provides further evidence supporting a role for the lysophosphatidyl signalling pathway in hair growth and differentiation. In addition, this paper reports, for the first time to our knowledge, the use of homozygosity mapping as a premutation screening tool in the diagnosis of a group of inherited hair disorders. © The Author(s). CED © 2010 British Association of Dermatologists.

Citation

S Nahum, F Morice-Picard, A Taieb, E Sprecher. A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. Clinical and experimental dermatology. 2011 Mar;36(2):188-94