Human Genetics

, Volume 123, Issue 5, pp 515–519

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

  • Zahid Azeem
  • Musharraf Jelani
  • Gul Naz
  • Muhammad Tariq
  • Naveed Wasif
  • Syed Kamran-ul-Hassan Naqvi
  • Muhammad Ayub
  • Masoom Yasinzai
  • Muhammad Amin-ud-din
  • Abdul Wali
  • Ghazanfar Ali
  • Muhammad Salman Chishti
  • Wasim Ahmad
Original Investigation

DOI: 10.1007/s00439-008-0507-7

Cite this article as:
Azeem, Z., Jelani, M., Naz, G. et al. Hum Genet (2008) 123: 515. doi:10.1007/s00439-008-0507-7

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.

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Zahid Azeem
    • 1
    • 4
  • Musharraf Jelani
    • 1
  • Gul Naz
    • 1
  • Muhammad Tariq
    • 1
  • Naveed Wasif
    • 1
  • Syed Kamran-ul-Hassan Naqvi
    • 1
  • Muhammad Ayub
    • 2
  • Masoom Yasinzai
    • 2
  • Muhammad Amin-ud-din
    • 3
  • Abdul Wali
    • 1
  • Ghazanfar Ali
    • 1
  • Muhammad Salman Chishti
    • 1
  • Wasim Ahmad
    • 1
  1. 1.Department of Biochemistry, Faculty of Biological SciencesQuaid-i-Azam UniversityIslamabadPakistan
  2. 2.Institute of BiochemistryUniversity of BaluchistanQuettaPakistan
  3. 3.Department of BiologyGovernment Degree CollegeD. G. KhanPakistan
  4. 4.Department of BiochemistryNational University of Sciences & TechnologyIslamabadPakistan

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