Rheumatology International

, Volume 30, Issue 1, pp 39–43

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

  • Berrin Yüksel-Konuk
  • Aslı Sırmacı
  • Gülen Ece Ayten
  • Mustafa Özdemir
  • İdil Aslan
  • Ülkü Yılmaz-Turay
  • Yurdanur Erdoğan
  • Mustafa Tekin
Original Article

DOI: 10.1007/s00296-009-0895-6

Cite this article as:
Yüksel-Konuk, B., Sırmacı, A., Ayten, G.E. et al. Rheumatol Int (2009) 30: 39. doi:10.1007/s00296-009-0895-6

Abstract

Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population.

Keywords

Autosomal recessiveConsanguinity15-Hydroxyprostaglandin dehydrogenase genePrimary hypertrophic osteoarthropathy

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Berrin Yüksel-Konuk
    • 1
  • Aslı Sırmacı
    • 1
  • Gülen Ece Ayten
    • 2
  • Mustafa Özdemir
    • 3
  • İdil Aslan
    • 1
  • Ülkü Yılmaz-Turay
    • 2
  • Yurdanur Erdoğan
    • 2
  • Mustafa Tekin
    • 1
  1. 1.Division of Clinical Molecular Pathology and Genetics, Department of PediatricsAnkara University School of MedicineAnkaraTurkey
  2. 2.Atatürk Chest and Surgery CenterAnkaraTurkey
  3. 3.Department of Dermatology, Meram Medical FacultySelçuk UniversityKonyaTurkey