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  • Title: A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
    Author: Nahum S, Morice-Picard F, Taieb A, Sprecher E.
    Journal: Clin Exp Dermatol; 2011 Mar; 36(2):188-94. PubMed ID: 21070332.
    Abstract:
    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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