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

作者：Nahum S; Morice Picard F; Taieb A; Sprecher E^*

来源：Clinical and Experimental Dermatology, 2011, 36(2): 188-194.

DOI：10.1111/j.1365-2230.2010.03944.x

Background. 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.
Aim. To identify the molecular basis of ARHS in a consanguineous family of Turkish extraction.
Methods. We used a combination of microsatellite marker screening and direct sequencing.
Results. 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.
Conclusions. 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.

• 出版日期2011-3