title: Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
abstract: Autosomal recessive hypotrichosis (LAH3) is a rare hair disorder characterized by sparse hair on scalp and the rest of the body of affected individuals. Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair. For the present study, 22 Pakistani families with autosomal recessive hypotrichosis were enrolled. Genotyping using microsatellite markers linked to three autosomal recessive forms of hypotrichosis (LAH1, LAH2, LAH3) showed the linkage of 2 families to the LAH2 locus and 14 to the LAH3 locus. The remaining 6 families were not linked to any of the three loci. Families linked to LAH3 locus were further subjected to screening of the P2RY5 gene with direct DNA sequencing. Three previously reported variants, c.69insCATG (p.24insHfs52), c.188A > T (p.D63V) and c.565G > A (p.E189K) were observed in eight families. Four novel nonsynonymous sequence variants, c.8G > C (p.S3T), c.36insA (p.D13RfsX16), c.160insA (p.N54TfsX58) and c.436G > A (p.G146R) were found to segregate within six families.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Zahid
authors.initials: Z
authors.lastname: Azeem
authors.forename: Musharraf
authors.initials: M
authors.lastname: Jelani
authors.forename: Gul
authors.initials: G
authors.lastname: Naz
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Naveed
authors.initials: N
authors.lastname: Wasif
authors.forename: Syed
authors.initials: S
authors.lastname: Kamran-Ul-Hassan Naqvi
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ayub
authors.forename: Masoom
authors.initials: M
authors.lastname: Yasinzai
authors.forename: Muhammad
authors.initials: M
authors.lastname: Amin-Ud-Din
authors.forename: Abdul
authors.initials: A
authors.lastname: Wali
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.forename: Muhammad Salman
authors.initials: MS
authors.lastname: Chishti
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D049368:Receptors, Lysophosphatidic Acid
chemical_list: D018048:Receptors, Purinergic P2; C082320:LPAR4 protein, human; D049368:Receptors, Lysophosphatidic Acid