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

Berrin Yüksel-Konuk, Asli SIrmacI, Gülen Ece Ayten, Mustafa Özdemir, Idil Aslan, Ülkü YIlmaz-Turay, Yurdanur Erdoǧan, Mustafa Tekin

Research output: Contribution to journalArticle

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)39-43
Number of pages5
JournalRheumatology International
Volume30
Issue number1
DOIs
StatePublished - Nov 1 2009
Externally publishedYes

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Keywords

  • 15-Hydroxyprostaglandin dehydrogenase gene
  • Autosomal recessive
  • Consanguinity
  • Primary hypertrophic osteoarthropathy

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Immunology and Allergy

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