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8.12. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

L Ben Aim , P Pigny , LJ Castro-Vega , A Buffet , L Amar , J Bertherat , D Drui , I Guilhem , E Baudin , C Lussey-Lepoutre , C Corsini , G Chabrier , C Briet , L Faivre , C Cardot-Bauters , J Favier , AP Gimenez-Roqueplo , N Burnichon

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

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ey0015.8-2 | Mechanism of the Year | ESPEYB15

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa , G Daniil , IJ Orozco , C Göppner , R El Zein , V Jain , S Boulkroun , X Jeunemaitre , L Amar , H Lefebvre , T Schwarzmayr , TM Strom , TJ Jentsch , MC Zennaro

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

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ey0018.8-7 | Important for Clinical Practice | ESPEYB18

8.7. Targeted metabolomics as a tool in discriminating endocrine from primary hypertension

Z Erlic , P Reel , S Reel , L Amar , A Pecori , CK Larsen , M Tetti , C Pamporaki , C Prehn , J Adamski , A Prejbisz , F Ceccato , C Scaroni , M Kroiss , MC Dennedy , J Deinum , K Langton , P Mulatero , M Reincke , L Lenzini , AP Gimenez-Roqueplo , G Assie , A Blanchard , MC Zennaro , E Jefferson , F Beuschlein

J Clin Endocrinol Metab. 2021 Mar 25;106(4):11111128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

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ey0020.6-11 | New Genes | ESPEYB20

6.11. Identification of risk loci for primary aldosteronism in genome-wide association studies

E Le Floch , T Cosentino , CK Larsen , F Beuschlein , M Reincke , L Amar , GP Rossi , K De Sousa , S Baron , S Chantalat , B Saintpierre , L Lenzini , A Frouin , I Giscos-Douriez , M Ferey , AB Abdellatif , T Meatchi , JP Empana , X Jouven , C Gieger , M Waldenberger , A Peters , D Cusi , E Salvi , P Meneton , M Touvier , M Deschasaux , N Druesne-Pecollo , S Boulkroun , FL Fernandes-Rosa , JF Deleuze , X Jeunemaitre , MC Zennaro

Brief summary: This genome-wide association study (GWAS) reports the first genetic loci for risk of primary aldosteronism. New candidate genes and their potential mechanisms for the development of aldosterone excess are described.Primary aldosteronism (PA) is the most frequent form of secondary hypertension (5% of patients with hypertension in primary care and 1020% of patients with hypertension referred to specialist care). PA is associated with c...

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ESPE Yearbook of Paediatric Endocrinology

8.12. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

8.7. Targeted metabolomics as a tool in discriminating endocrine from primary hypertension

6.11. Identification of risk loci for primary aldosteronism in genome-wide association studies

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