A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy

Clinical and Experimental Rheumatology

Volumn 28, Issue 2, 2010, Pages 153-157

  Sinibaldi, Lorenzo ^a   Harifi, Ghita ^b   Bottillo, Irene ^a,c   Iannicelli, Miriam ^a,c   El Hassani, Selma ^b   Brancati, Francesco ^a,d   Dallapiccola, Bruno ^a,e  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b CENTRE HOSPITALIER UNIVERSITAIRE MOHAMMED VI   (Morocco)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

15 hydroxyprostaglandindehydrogenase; Digital clubbing; HPGD; Pachydermoperiostosis; Primary hypertrophic osteoarthropathy

Indexed keywords

15 HYDROXYPROSTAGLANDIN DEHYDROGENASE; DICLOFENAC;

ACROOSTEOLYSIS; ADOLESCENT; ARTHRALGIA; ARTICLE; CLINICAL ARTICLE; CLUBBING FINGERS; CUTIS VERTICIS GYRATA; ECZEMA; EXON; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPERHIDROSIS; HYPERTROPHIC OSTEOARTHROPATHY; INTRON; MALE; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SKIN DISEASE; SPLICING DEFECT;

ADOLESCENT; HOMOZYGOTE; HUMANS; HYDROXYPROSTAGLANDIN DEHYDROGENASES; MALE; OSTEOARTHROPATHY, PRIMARY HYPERTROPHIC; OSTEOARTHROPATHY, SECONDARY HYPERTROPHIC; RNA SPLICE SITES; SEVERITY OF ILLNESS INDEX;

EID: 77952782216     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. AUGER M, STAVRIANEAS N: Orphanet Encyclopedia 2004.
2. CASTORI M, SINIBALDI L, MINGARELLI R, LACHMAN RS, RIMOIN DL, DALLAPICCOLA B: Pachydermoperiostosis: an update. Clin Genet 2005; 68: 477-486
3. COURY C: Hippocratic fingers and hypertrophic osteoarthropathy. A study of 350 cases. Br J Dis Chest 1960; 54: 202-209
4. CURRARINO G, TIERNEY RC, GIESEL RG, WEIHL C: Familial idiopathic osteoarthropathy. Am J Roentgenol Radium Ther Nucl Med 1961; 85: 633-644
5. GIRISHA KM, MANDAL K, PHADKE SR: Milder form of pachydermoperiostosis: a report of four cases. Clin Dysmorphol 2009; 18: 85-89
6. MARTINEZ-LAVIN M, PINEDA C, NAVARRO C, BUENDIA A, ZABAL C: Primary hypertrophic osteoarthropathy: another heritable disorder associated with patent ductus arteriosus. Pediatr Cardiol 1993; 14: 181-182
7. OZDEMIR M, YILDIRIM S, MEVLITOGLU I: En coup de sabre accompanied by pachydermoperiostosis: a case report. Clin Exp Rheumatol 2007; 25: 315-317 (Pubitemid 46851440)
8. SEIFERT W, BENINDE J, HOFFMANN K et al.: HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. Eur J Hum Genet 2009; 17: 1570-1576
9. SINHA GP, CURTIS P, HAIGH D, LEALMAN GT, DODDS W, BENNETT CP: Pachydermoperiostosis in childhood. Br J Rheumatol 1997; 36: 1224-1227
10. TARIQ M, AZEEM Z, ALI G, CHISHTI MS, AHMAD W: 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. TOURAINE A, SOLENTE G, GOLE L: Un syndrome osteodermopatique: la pachydermie plicaturee avec pachyperiostose des extremites. Press Med 1935; 43: 1820-1824
12. UPPAL S, DIGGLE CP, CARR IM et al.: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 2008; 40: 789-793
13. WINTER R, BARAITSER M: London Medical Database, 2005.
14. YUKSEL-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; Mar 22 (Epub ahead of print).