Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy

Rheumatology

Volumn 49, Issue 6, 2010, Pages 1056-1062

  Diggle, Christine P ^a   Carr, Ian M ^a   Zitt, Emanuel ^b   Wusik, Katie ^c   Hopkin, Robert J ^c   Prada, Carlos E ^c   Calabrese, Olga ^d   Rittinger, Olaf ^e   Punaro, Marilynn G ^f   Markham, Alexander F ^a   Bonthron, David T ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d S ANNA HOSPITAL   (Italy)

^e PARACELSUS MEDICAL UNIVERSITY   (Austria)

^f UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

15 hydroxyprostaglandin dehydrogenase; Clubbing; Primary hypertrophic osteoarthropathy; Prostaglandin

Indexed keywords

15 HYDROXYPROSTAGLANDIN DEHYDROGENASE; CYTOSINE; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; THYMINE;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOTE; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MALE; MUTATIONAL ANALYSIS; OSTEOARTHROPATHY; PAIN; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYDROXYPROSTAGLANDIN DEHYDROGENASES; INFANT; INFANT, NEWBORN; MALE; MUTATION; OSTEOARTHROPATHY, PRIMARY HYPERTROPHIC; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 77953551232     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/keq048     Document Type: Article

References (15)

1. Rimoin DL. Pachydermoperiostosis (idiopathic clubbing and periostosis): genetic and physiologic considerations. N Engl J Med 1965;272:923-31.
2. Touraine A, Solente G, Golé L. A syndrome of bone and skin: thickened folded skin with periosteal thickening of the extremities. Presse Med 1935;43:1820-4.
3. Forslund T, Nyberg A, Janne S et al. Hypertrophic osteoarthropathy and familial digital clubbing in a patient with surgical closed ductus arteriosus Botalli. Scand J Rheumatol 1987;16:371-3.
4. Currarino G, Tierney RC, Giesel RG et al. Familial idiopathic osteoarthropathy. Am J Roentgenol Radium Ther Nucl Med 1961;85:633-44.
5. Bachmeyer C, Blum L, Cadranel JF et al. Myelofibrosis in a patient with pachydermoperiostosis. Clin Exp Dermatol 2005;30:646-8.
6. Castori M, Sinibaldi L, Mingarelli R et al. Pachydermoperiostosis: an update. Clin Genet 2005;68: 477-86.
7. Uppal S, Diggle CP, Carr IM et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 2008;40: 789-93.
8. Okita RT, Okita JR. Prostaglandin-metabolizing enzymes during pregnancy: characterization of NAD(+)-dependent prostaglandin dehydrogenase, carbonyl reductase, and cytochrome P450-dependent prostaglandin omega-hydroxylase. Crit Rev Biochem Mol Biol 1996;31: 101-26.
9. Piper PJ, Vane JR, Wyllie JH. Inactivation of prostaglandins by the lungs. Nature 1970;225:600-4.
10. Tariq M, Azeem Z, Ali G et al. Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). J Med Genet 2009;46:14-20.
11. Seifert W, Beninde J, Hoffmann K et al. HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. Eur J Hum Genet 2009;17:1570-6.
12. Yüksel-Konuk B, Sirmaci A, Ayten GE et al. Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int 2009;30:39-43.
13. Latos-Bielenska A, Marik I, Kuklik M et al. Pachydermoperiostosis-critical analysis with report of five unusual cases. Eur J Pediatr 2007;166: 1237-43.
14. Waddell WR, Gerner RE. Indomethacin and ascorbate inhibit desmoid tumors. J Surg Oncol 1980;15:85-90.
15. Francis WP, Zippel D, Mack LA et al. Desmoids: a revelation in biology and treatment. Ann Surg Oncol 2009;16: 1650-4.