Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Christine P. Diggle, David A. Parry, Clare V. Logan, Paul Laissue, Carolina Rivera, Carlos Martín Restrepo, Dora J. Fonseca, Joanne E. Morgan, Yannick Allanore, Michaela Fontenay, Julien Wipff, Mathilde Varret, Laure Gibault, Nadezhda Dalantaeva, Márta Korbonits, Bowen Zhou, Gang Yuan, Ghita Harifi, Kivanc Cefle, Sukru PalanduzHadim Akoglu, Petra J. Zwijnenburg, Klaske D. Lichtenbelt, Bérengère Aubry-Rozier, Andrea Superti-Furga, Bruno Dallapiccola, Maria Accadia, Francesco Brancati, Eamonn G. Sheridan, Graham R. Taylor, Ian M. Carr, Colin A. Johnson, Alexander F. Markham, David T. Bonthron

Resultado de la investigación: Contribución a RevistaArtículo

51 Citas (Scopus)

Resumen

Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating prostaglandin E2 (PGE2) as causative of PHO, and perhaps also as the principal mediator of secondary HO. However, PHO is genetically heterogeneous. Here, we use whole-exome sequencing to identify recessive mutations of the prostaglandin transporter SLCO2A1, in individuals lacking HPGD mutations. We performed exome sequencing of four probands with severe PHO, followed by conventional mutation analysis of SLCO2A1 in nine others. Biallelic SLCO2A1 mutations were identified in 12 of the 13 families. Affected individuals had elevated urinary PGE2, but unlike HPGD-deficient patients, also excreted considerable quantities of the PGE2 metabolite, PGE-M. Clinical differences between the two groups were also identified, notably that SLCO2A1-deficient individuals have a high frequency of severe anemia due to myelofibrosis. These findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO. They also suggest that the induction or maintenance of hematopoietic stem cells by prostaglandin may depend upon transporter activity. © 2012 Wiley Periodicals, Inc.
Idioma originalEnglish (US)
Páginas (desde-hasta)1175-1181
Número de páginas7
PublicaciónHuman Mutation
DOI
EstadoPublished - ago 1 2012

Huella dactilar

Primary Hypertrophic Osteoarthropathy
Primary Myelofibrosis
Prostaglandins
Hydroxyprostaglandin Dehydrogenases
Mutation
Dinoprostone
Exome
15-hydroxyprostaglandin dehydrogenase
Hematopoietic Stem Cells
Anemia
Maintenance
Pathology
Enzymes

Citar esto

Diggle, C. P., Parry, D. A., Logan, C. V., Laissue, P., Rivera, C., Restrepo, C. M., ... Bonthron, D. T. (2012). Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Human Mutation, 1175-1181. https://doi.org/10.1002/humu.22111
Diggle, Christine P. ; Parry, David A. ; Logan, Clare V. ; Laissue, Paul ; Rivera, Carolina ; Restrepo, Carlos Martín ; Fonseca, Dora J. ; Morgan, Joanne E. ; Allanore, Yannick ; Fontenay, Michaela ; Wipff, Julien ; Varret, Mathilde ; Gibault, Laure ; Dalantaeva, Nadezhda ; Korbonits, Márta ; Zhou, Bowen ; Yuan, Gang ; Harifi, Ghita ; Cefle, Kivanc ; Palanduz, Sukru ; Akoglu, Hadim ; Zwijnenburg, Petra J. ; Lichtenbelt, Klaske D. ; Aubry-Rozier, Bérengère ; Superti-Furga, Andrea ; Dallapiccola, Bruno ; Accadia, Maria ; Brancati, Francesco ; Sheridan, Eamonn G. ; Taylor, Graham R. ; Carr, Ian M. ; Johnson, Colin A. ; Markham, Alexander F. ; Bonthron, David T. / Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. En: Human Mutation. 2012 ; pp. 1175-1181.
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title = "Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis",
abstract = "Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating prostaglandin E2 (PGE2) as causative of PHO, and perhaps also as the principal mediator of secondary HO. However, PHO is genetically heterogeneous. Here, we use whole-exome sequencing to identify recessive mutations of the prostaglandin transporter SLCO2A1, in individuals lacking HPGD mutations. We performed exome sequencing of four probands with severe PHO, followed by conventional mutation analysis of SLCO2A1 in nine others. Biallelic SLCO2A1 mutations were identified in 12 of the 13 families. Affected individuals had elevated urinary PGE2, but unlike HPGD-deficient patients, also excreted considerable quantities of the PGE2 metabolite, PGE-M. Clinical differences between the two groups were also identified, notably that SLCO2A1-deficient individuals have a high frequency of severe anemia due to myelofibrosis. These findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO. They also suggest that the induction or maintenance of hematopoietic stem cells by prostaglandin may depend upon transporter activity. {\circledC} 2012 Wiley Periodicals, Inc.",
author = "Diggle, {Christine P.} and Parry, {David A.} and Logan, {Clare V.} and Paul Laissue and Carolina Rivera and Restrepo, {Carlos Mart{\'i}n} and Fonseca, {Dora J.} and Morgan, {Joanne E.} and Yannick Allanore and Michaela Fontenay and Julien Wipff and Mathilde Varret and Laure Gibault and Nadezhda Dalantaeva and M{\'a}rta Korbonits and Bowen Zhou and Gang Yuan and Ghita Harifi and Kivanc Cefle and Sukru Palanduz and Hadim Akoglu and Zwijnenburg, {Petra J.} and Lichtenbelt, {Klaske D.} and B{\'e}reng{\`e}re Aubry-Rozier and Andrea Superti-Furga and Bruno Dallapiccola and Maria Accadia and Francesco Brancati and Sheridan, {Eamonn G.} and Taylor, {Graham R.} and Carr, {Ian M.} and Johnson, {Colin A.} and Markham, {Alexander F.} and Bonthron, {David T.}",
year = "2012",
month = "8",
day = "1",
doi = "10.1002/humu.22111",
language = "English (US)",
pages = "1175--1181",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",

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Diggle, CP, Parry, DA, Logan, CV, Laissue, P, Rivera, C, Restrepo, CM, Fonseca, DJ, Morgan, JE, Allanore, Y, Fontenay, M, Wipff, J, Varret, M, Gibault, L, Dalantaeva, N, Korbonits, M, Zhou, B, Yuan, G, Harifi, G, Cefle, K, Palanduz, S, Akoglu, H, Zwijnenburg, PJ, Lichtenbelt, KD, Aubry-Rozier, B, Superti-Furga, A, Dallapiccola, B, Accadia, M, Brancati, F, Sheridan, EG, Taylor, GR, Carr, IM, Johnson, CA, Markham, AF & Bonthron, DT 2012, 'Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis', Human Mutation, pp. 1175-1181. https://doi.org/10.1002/humu.22111

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. / Diggle, Christine P.; Parry, David A.; Logan, Clare V.; Laissue, Paul; Rivera, Carolina; Restrepo, Carlos Martín; Fonseca, Dora J.; Morgan, Joanne E.; Allanore, Yannick; Fontenay, Michaela; Wipff, Julien; Varret, Mathilde; Gibault, Laure; Dalantaeva, Nadezhda; Korbonits, Márta; Zhou, Bowen; Yuan, Gang; Harifi, Ghita; Cefle, Kivanc; Palanduz, Sukru; Akoglu, Hadim; Zwijnenburg, Petra J.; Lichtenbelt, Klaske D.; Aubry-Rozier, Bérengère; Superti-Furga, Andrea; Dallapiccola, Bruno; Accadia, Maria; Brancati, Francesco; Sheridan, Eamonn G.; Taylor, Graham R.; Carr, Ian M.; Johnson, Colin A.; Markham, Alexander F.; Bonthron, David T.

En: Human Mutation, 01.08.2012, p. 1175-1181.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

AU - Diggle, Christine P.

AU - Parry, David A.

AU - Logan, Clare V.

AU - Laissue, Paul

AU - Rivera, Carolina

AU - Restrepo, Carlos Martín

AU - Fonseca, Dora J.

AU - Morgan, Joanne E.

AU - Allanore, Yannick

AU - Fontenay, Michaela

AU - Wipff, Julien

AU - Varret, Mathilde

AU - Gibault, Laure

AU - Dalantaeva, Nadezhda

AU - Korbonits, Márta

AU - Zhou, Bowen

AU - Yuan, Gang

AU - Harifi, Ghita

AU - Cefle, Kivanc

AU - Palanduz, Sukru

AU - Akoglu, Hadim

AU - Zwijnenburg, Petra J.

AU - Lichtenbelt, Klaske D.

AU - Aubry-Rozier, Bérengère

AU - Superti-Furga, Andrea

AU - Dallapiccola, Bruno

AU - Accadia, Maria

AU - Brancati, Francesco

AU - Sheridan, Eamonn G.

AU - Taylor, Graham R.

AU - Carr, Ian M.

AU - Johnson, Colin A.

AU - Markham, Alexander F.

AU - Bonthron, David T.

PY - 2012/8/1

Y1 - 2012/8/1

N2 - Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating prostaglandin E2 (PGE2) as causative of PHO, and perhaps also as the principal mediator of secondary HO. However, PHO is genetically heterogeneous. Here, we use whole-exome sequencing to identify recessive mutations of the prostaglandin transporter SLCO2A1, in individuals lacking HPGD mutations. We performed exome sequencing of four probands with severe PHO, followed by conventional mutation analysis of SLCO2A1 in nine others. Biallelic SLCO2A1 mutations were identified in 12 of the 13 families. Affected individuals had elevated urinary PGE2, but unlike HPGD-deficient patients, also excreted considerable quantities of the PGE2 metabolite, PGE-M. Clinical differences between the two groups were also identified, notably that SLCO2A1-deficient individuals have a high frequency of severe anemia due to myelofibrosis. These findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO. They also suggest that the induction or maintenance of hematopoietic stem cells by prostaglandin may depend upon transporter activity. © 2012 Wiley Periodicals, Inc.

AB - Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating prostaglandin E2 (PGE2) as causative of PHO, and perhaps also as the principal mediator of secondary HO. However, PHO is genetically heterogeneous. Here, we use whole-exome sequencing to identify recessive mutations of the prostaglandin transporter SLCO2A1, in individuals lacking HPGD mutations. We performed exome sequencing of four probands with severe PHO, followed by conventional mutation analysis of SLCO2A1 in nine others. Biallelic SLCO2A1 mutations were identified in 12 of the 13 families. Affected individuals had elevated urinary PGE2, but unlike HPGD-deficient patients, also excreted considerable quantities of the PGE2 metabolite, PGE-M. Clinical differences between the two groups were also identified, notably that SLCO2A1-deficient individuals have a high frequency of severe anemia due to myelofibrosis. These findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO. They also suggest that the induction or maintenance of hematopoietic stem cells by prostaglandin may depend upon transporter activity. © 2012 Wiley Periodicals, Inc.

U2 - 10.1002/humu.22111

DO - 10.1002/humu.22111

M3 - Article

SP - 1175

EP - 1181

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

ER -

Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM y otros. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Human Mutation. 2012 ago 1;1175-1181. https://doi.org/10.1002/humu.22111