title: Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
abstract: Hypotrichosis simplex comprises a group of non-syndromic human alopecias. Diffuse loss of hair typically starts in early childhood and progresses throughout adolescence. We and others have previously reported mutations in the P2RY5 gene and the LIPH gene as being causal factors of autosomal recessive hypotrichosis simplex with or without woolly hair. In the present study, we analyzed one Turkish family and two non-related girls of Indian ethnicity affected with hypotrichosis and woolly hair for mutations in these genes. We identified as yet unreported mutations in the P2RY5 gene: a 1-base pair deletion (c.472delC) and a 4-base pair duplication (c.64_67dupTGCA), both of which lead to frameshifts resulting in truncated proteins. Our study increases the spectrum of known P2RY5 mutations and highlights the importance of this receptor in human hair growth and texture.
authors.affiliation: Institute of Human Genetics, University of Bonn, 53111 Bonn, Germany.
authors.forename: Sandra M
authors.initials: SM
authors.lastname: Pasternack
authors.forename: Sundaram
authors.initials: S
authors.lastname: Murugusundram
authors.forename: Sibylle
authors.initials: S
authors.lastname: Eigelshoven
authors.forename: Melanie
authors.initials: M
authors.lastname: Müller
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
authors.forename: Percy
authors.initials: P
authors.lastname: Lehmann
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
mesh_terms: D001483:Base Sequence; D002648:Child; D005260:Female; D006197:Hair / Q000473:pathology; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007194:India; D008049:Lipase / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D014421:Turkey; D049368:Receptors, Lysophosphatidic Acid
chemical_list: D008049:Lipase; D018048:Receptors, Purinergic P2; C504173:LIPC protein, human; C082320:LPAR4 protein, human; D049368:Receptors, Lysophosphatidic Acid