A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp
S Nahum1, F Morice-Picard, A Taieb
1Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
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.
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