Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing

Busch, J. P. zum; Frank, Valeska; Bachmann, Nadine; Otsuka, Atsushi; Oji, Vinzenz; Metze, Dieter; Shah, Krati; Danda, Sumita; Watzer, Bernhard; Traupe, Heiko; Bolz, Hanno J.; Kabashima, Kenji; Bergmann, Carsten

doi:10.1038/jid.2012.146

Cited by 42 publications

(25 citation statements)

References 12 publications

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“…Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene, encoding the major enzyme responsible for prostaglandin degradation, or the solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene, which encodes a prostaglandin transporter protein (PGT) responsible for intracellular prostaglandin up-take, have been identified as underlying cause [88][89][90][91][92][93][94][95]. Increased levels of circulating PGE 2 in PHO patients together with the observation, that infused PGE 2 (for therapeutic reasons in treating newborns with duct-dependent congenital heart disease) can induce skeletal changes similar to PHO, suggest that increased availability of systemic PGE 2 is responsible for the symptoms observed in PHO patients [88,91,96].…”

Section: Primary Hypertrophic Osteoarthropathy (Pho)mentioning

confidence: 99%

Autoinflammatory bone disorders

Morbach

Hedrich

Beer

et al. 2013

Clinical Immunology

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Section: Primary Hypertrophic Osteoarthropathy (Pho)mentioning

confidence: 99%

Autoinflammatory bone disorders

Morbach

Hedrich

Beer

et al. 2013

Clinical Immunology

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“…Additional manuscript for isolation of SLCO2A1 mutation in PDP patients were published [24] in revision. Fig.…”

Section: Note Added In Proofmentioning

confidence: 99%

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis

Sasaki¹,

Niizeki²,

Shimizu³

et al. 2012

Journal of Dermatological Science

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“…Loss‐of‐function (LOF) mutations in the SLCO2A1 gene, encoding a prostaglandin transporter have been described to cause pediatric‐onset chronic nonspecific multiple ulcers of the small intestine, accompanied with persistent blood and protein‐losing enteropathy in the Japanese population. Mutations in SLCO2A1 have been previously reported as the cause of primary hypertrophic osteoarthropathy (PHO) . Three out of five male patients with chronic enteropathy associated with SLCO2A1 had all of the major clinical features of PHO as well, such as digital clubbing, periostosis, and pachydermia.…”

Section: Monogenic Forms Of Inflammatory Bowel Diseasementioning

confidence: 99%

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Pázmándi

Kalinichenko

Ardy

et al. 2018

Immunological Reviews

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Summary Rare, monogenetic diseases present unique models to dissect gene functions and biological pathways, concomitantly enhancing our understanding of the etiology of complex (and often more common) traits. Although inflammatory bowel disease (IBD) is a generally prototypic complex disease, it can also manifest in an early‐onset, monogenic fashion, often following Mendelian modes of inheritance. Recent advances in genomic technologies have spurred the identification of genetic defects underlying rare, very early‐onset IBD (VEO‐IBD) as a disease subgroup driven by strong genetic influence, pinpointing key players in the delicate homeostasis of the immune system in the gut and illustrating the intimate relationships between bowel inflammation, systemic immune dysregulation, and primary immunodeficiency with increased susceptibility to infections. As for other human diseases, it is likely that adult‐onset diseases may represent complex diseases integrating the effects of host genetic susceptibility and environmental triggers. Comparison of adult‐onset IBD and VEO‐IBD thus provides beautiful models to investigate the relationship between monogenic and multifactorial/polygenic diseases. This review discusses the present and novel findings regarding monogenic IBD as well as key questions and future directions of IBD research.

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Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing

Abstract: Abbreviations: HPGD, 15-hydroxyprostaglandin dehydrogenase; NMD, nonsense-mediated decay; PG, prostaglandin; PHO, hypertrophic osteoarthropathy www.jidonline.org 2473 J Busch et al.

Cited by 42 publications

References 12 publications

Autoinflammatory bone disorders

Autoinflammatory bone disorders

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

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