Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
During the last decade, several causative genes for hereditary hair diseases have been identified, which have disclosed the molecular mechanisms involved in hair follicle morphogenesis and cycling. We and others recently reported that mutations in the P2RY5 gene, encoding an orphan G protein-coupled receptor, underlie autosomal recessive woolly hair (WH)/hypotrichosis. Although these findings clearly reveal the involvement of P2RY5 mutations in hereditary hair diseases, the clinical manifestations of P2RY5 mutations have not completely been elucidated because of limited information to date. In this study, we ascertained a consanguineous family of Iranian origin with an affected girl showing sparse and hypopigmented scalp hair. She exhibited the WH phenotype with normal hair density at birth, but progressed with age to develop hypotrichosis. Direct sequencing analysis resulted in the identification of a novel homozygous mutation in the P2RY5 gene of the patient, which results in a non-conservative amino acid change, G146R, at the protein level. Our findings extend the mutation spectrum of P2RY5 mutations, and further support a crucial role of P2Y5 in hair growth in humans.
Shimomura
Yutaka
Y
Department of Dermatology, Columbia University, New York, NY 10032, USA
Garzon
Maria C
MC
Kristal
Leonard
L
Shapiro
Lawrence
L
Christiano
Angela M
AM
D000595:Amino Acid Sequence; D016022:Case-Control Studies; D002648:Child; D005260:Female; D006197:Hair / Q000473:pathology*; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology*; D007492:Iran; D008049:Lipase / Q000378:metabolism; D008246:Lysophospholipids / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018048:Receptors, Purinergic P2 / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology; D049368:Receptors, Lysophosphatidic Acid
D008049:Lipase; D008246:Lysophospholipids; D018048:Receptors, Purinergic P2; C504173:LIPC protein, human; C082320:LPAR4 protein, human; D049368:Receptors, Lysophosphatidic Acid; C032881:lysophosphatidic acid