Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism (original) (raw)

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Acknowledgements

We thank the subjects and families whose participation made this study possible. We thank the staff of the Yale West Campus Genomics Center, the Yale Cellular and Molecular Physiology Microscopy and Imaging Core, the Endocrine Surgical Laboratory, Clinical Research Centre, Uppsala University Hospital and the Department of Surgery, Montefiore Medical Center and Albert Einstein College of Medicine for their invaluable contributions to this research. J. Matthes (Universität Köln) and F. Lehmann-Horn (Universität Ulm) kindly provided us with clones for the α2δ subunits. This work was supported by the US National Institutes of Health (NIH) Centers for Mendelian Genomics (5U54HG006504), the Fondation Leducq Transatlantic Network in Hypertension and the Deutsche Forschungsgemeinschaft and by the Swedish Cancer Society, the Swedish Research Council and the Lions Cancer Fund, Uppsala. G.G. is supported by the Agency for Science, Technology and Research, Singapore. T.C. is a Doris Duke-Damon Runyon Clinical Investigator. R.P.L. is an Investigator of the Howard Hughes Medical Institute.

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Author notes

1. Ute I Scholl, Gerald Goh and Gabriel Stölting: These authors contributed equally to this work.

Authors and Affiliations

1. Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
   Ute I Scholl, Gerald Goh, Murim Choi, John D Overton, Erin Loring, Carol Nelson-Williams, Shrikant Mane & Richard P Lifton
2. Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA
   Ute I Scholl, Gerald Goh, Murim Choi, Erin Loring, Carol Nelson-Williams & Richard P Lifton
3. Institute of Complex Systems, Zelluläre Biophysik (ICS-4), Forschungszentrum Jülich, Jülich, Germany
   Gabriel Stölting, Christoph Fahlke & Patricia Hidalgo
4. Institut für Neurophysiologie, Medizinische Hochschule Hannover, Hannover, Germany
   Regina Campos de Oliveira
5. Yale Center for Mendelian Genomics, New Haven, Connecticut, USA
   Murim Choi, John D Overton, Erin Loring, Shrikant Mane & Richard P Lifton
6. Department of Surgery, Yale Endocrine Neoplasia Laboratory, Yale University School of Medicine, New Haven, Connecticut, USA
   Annabelle L Fonseca, Reju Korah, Lee F Starker, John W Kunstman & Tobias Carling
7. Department of Surgical Sciences, Uppsala University, Uppsala, Sweden
   Lee F Starker, Per Hellman, Gunnar Westin, Göran Åkerström & Peyman Björklund
8. Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA
   Manju L Prasad
9. Division of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
   Erum A Hartung
10. Nemours Children's Clinic, Jacksonville, Florida, USA
    Nelly Mauras & Matthew R Benson
11. Johns Hopkins Pediatric Nephrology, Baltimore, Maryland, USA
    Tammy Brady
12. Osteogenesis Imperfecta Program, Kennedy Krieger Institute, Baltimore, Maryland, USA
    Jay R Shapiro
13. Department of Surgery, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York, USA
    Steven K Libutti
14. Yale Cancer Center, Yale University School of Medicine, New Haven, Connecticut, USA
    Tobias Carling

Authors

1. Ute I Scholl
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2. Gerald Goh
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3. Gabriel Stölting
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4. Regina Campos de Oliveira
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5. Murim Choi
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6. John D Overton
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7. Annabelle L Fonseca
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8. Reju Korah
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9. Lee F Starker
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10. John W Kunstman
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11. Manju L Prasad
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12. Erum A Hartung
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13. Nelly Mauras
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14. Matthew R Benson
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15. Tammy Brady
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16. Jay R Shapiro
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17. Erin Loring
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18. Carol Nelson-Williams
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19. Steven K Libutti
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20. Shrikant Mane
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21. Per Hellman
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22. Gunnar Westin
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23. Göran Åkerström
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24. Peyman Björklund
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25. Tobias Carling
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26. Christoph Fahlke
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27. Patricia Hidalgo
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28. Richard P Lifton
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Contributions

A.L.F., L.F.S., J.W.K., M.L.P., E.A.H., N.M., M.R.B., T.B., J.R.S., E.L., U.I.S., R.P.L., S.K.L., P. Hellman, G.W., G.Å., P.B. and T.C. ascertained and recruited subjects and obtained samples and medical records. A.L.F., R.K., L.F.S., U.I.S., P.B. and C.N.-W. prepared DNA and RNA samples and maintained sample archives. J.D.O. and S.M. performed exome sequencing. U.I.S. and G.G. performed and analyzed targeted DNA and RNA sequencing. G.G., M.C. and R.P.L. analyzed exome sequencing results. U.I.S. and R.K. performed immunohistochemistry. U.I.S., G.S., R.C.d.O., C.F. and P. Hidalgo made constructs and performed and analyzed electrophysiology. U.I.S., G.G., G.S., C.F., P. Hidalgo and R.P.L. wrote the manuscript.

Corresponding author

Correspondence toRichard P Lifton.

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The authors declare no competing financial interests.

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Scholl, U., Goh, G., Stölting, G. et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.Nat Genet 45, 1050–1054 (2013). https://doi.org/10.1038/ng.2695

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• Received: 12 February 2013
• Accepted: 10 June 2013
• Published: 04 August 2013
• Issue Date: September 2013
• DOI: https://doi.org/10.1038/ng.2695