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Homozygous Mutations in the 15-hydroxyprostaglandin Dehydrogenase Gene in Patients with Primary Hypertrophic Osteoarthropathy

Overview
Journal Rheumatol Int
Specialty Rheumatology
Date 2009 Mar 24
PMID 19306095
Citations 17
Authors
Berrin Yuksel-Konuk
Asli Sirmaci
Gulen Ece Ayten
Mustafa Ozdemir
Idil Aslan
Ulku Yilmaz-Turay
Yurdanur Erdogan
Mustafa Tekin
Affiliations
Soon will be listed here.
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.

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References
1.
Uppal S, Diggle C, Carr I, Fishwick C, Ahmed M, Ibrahim G . Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008; 40(6):789-93. DOI: 10.1038/ng.153. View
2.
Matucci-Cerinic M, Pignone A, Generini S, Korn J . Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)?. Clin Exp Rheumatol. 2000; 18(1):1-2. View
3.
Park H, Shaukat S, Liu X, Hahn S, Naz S, Ghosh M . Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003; 40(4):242-8. PMC: 1735432. DOI: 10.1136/jmg.40.4.242. View
4.
Ozdemir M, Yildirim S, Mevlitoglu I . En coup de sabre accompanied by pachydermoperiostosis: a case report. Clin Exp Rheumatol. 2007; 25(2):315-7. View
5.
Tekin M, Bogoclu G, Arican S, Orman M, Tastan H, Elsobky E . Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia. Clin Genet. 2004; 67(1):31-7. DOI: 10.1111/j.1399-0004.2004.00334.x. View