Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
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.
Azeem
Zahid
Z
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Jelani
Musharraf
M
Naz
Gul
G
Tariq
Muhammad
M
Wasif
Naveed
N
Kamran-Ul-Hassan Naqvi
Syed
S
Ayub
Muhammad
M
Yasinzai
Masoom
M
Amin-Ud-Din
Muhammad
M
Wali
Abdul
A
Ali
Ghazanfar
G
Chishti
Muhammad Salman
MS
Ahmad
Wasim
W
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
D018048:Receptors, Purinergic P2; C082320:LPAR4 protein, human; D049368:Receptors, Lysophosphatidic Acid