Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing

Journal of Investigative Dermatology

Volumn 132, Issue 10, 2012, Pages 2473-2476

  Busch, Jutta ^a   Frank, Valeska ^a   Bachmann, Nadine ^a   Otsuka, Atoshi ^b   Oji, Vinzenz ^c   Metze, Dieter ^c   Shah, Krati ^d   Danda, Sumita ^d   Watzer, Bernhard ^e   Traupe, Heiko ^c   Bolz, Hanno J ^a,f   Kabashima, Kenji ^b   Bergmann, Carsten ^a,g,h  

^a Bioscientia Center for Human Genetics   (Germany)

^b KYOTO UNIVERSITY   (Japan)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d CHRISTIAN MEDICAL COLLEGE   (India)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g RWTH AACHEN UNIVERSITY   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; ISOTRETINOIN; NONSTEROID ANTIINFLAMMATORY AGENT; PROSTAGLANDIN E2;

ADOLESCENT; ADULT; CLINICAL ARTICLE; CLUBBING FINGERS; ELECTROPHORESIS; EXON; GENE; GENE DELETION; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPERTROPHIC OSTEOARTHROPATHY; INTRON; LETTER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEBORRHEA; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN MANIFESTATION; SLCO2A1 GENE; SPLICING DEFECT;

EID: 84866413830     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.146     Document Type: Letter

References (12)

1. Bergmann C, Wobser M, Morbach H et al. (2011) Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-offunction mutations. Exp Dermatol 20:531-3
2. Bordoli L, Kiefer F, Arnold K et al. (2009) Protein structure homology modeling using SWISSMODEL workspace. Nat Protoc 4:1-13
3. Castori M, Sinibaldi L, Mingarelli R et al. (2005) Pachydermoperiostosis: an update. Clin Genet 68:477-86 (Pubitemid 41748846)
4. Diggle CP, Carr IM, Zitt E et al. (2010) Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. Rheumatology (Oxford) 49:1056-62
5. Kanai N, Lu R, Satriano JA et al. (1995) Identification and characterization of a prostaglandin transporter. Science 268:866-9
6. Lu R, Schuster VL (1998) Molecular cloning of the gene for the human prostaglandin transporter hPGT: gene organization, promoter activity, and chromosomal localization. Biochem Biophys Res Commun 246:805-12 (Pubitemid 28420939)
7. Meng EC, Pettersen EF, Couch GS et al. (2006) Tools for integrated sequence-structure analysis with UCSF Chimera. BMC Bioinform 7:339
8. Nomura T, Lu R, Pucci ML et al. (2004) The twostep model of prostaglandin signal termination: in vitro reconstitution with the prostaglandin transporter and prostaglandin 15 dehydrogenase. Mol Pharmacol 65:973-8 (Pubitemid 38420503)
9. Tariq M, Azeem Z, Ali G et al. (2009) Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). J Med Genet 46:14-20
10. Uppal S, Diggle CP, Carr IM et al. (2008) Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 40:789-93 (Pubitemid 351748871)
11. Yang Z, Lasker K, Schneidman-Duhovny D et al. (2011) UCSF Chimera, MODELLER, and IMP: an integrated modeling system. J Struct Biol; e-pub ahead of print 22 September 2011
12. Zhang Z, Xia W, He J et al. (2012) Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 90:125-32