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Rheumatol Int. 2009 Nov;30(1):39-43. doi: 10.1007/s00296-009-0895-6.

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

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Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, 06100 Ankara, Turkey.


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.

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