KDM1A inactivation causes hereditary food-dependent Cushing syndrome.

doi:10.1016/j.gim.2021.09.018

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Article

KDM1A inactivation causes hereditary food-dependent Cushing syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022

Vaczlavik Anna, Bouys Lucas, Violon Florian, Giannone Gaetan, Jouinot Anne, Armignacco Roberta, Cavalcante Isadora P, Berthon Annabel, Letouzé Eric, Vaduva Patricia, Barat Maxime, Bonnet Fidéline, Perlemoine Karine, Ribes Christopher, Sibony Mathilde, North Marie-Odile, Espiard Stéphanie, Emy Philippe, Haissaguerre Magalie, Tauveron Igor, Guignat Laurence, Groussin Lionel, Dousset Bertrand, Reincke Martin, Fragoso Maria C, Stratakis Constantine A, Pasmant Eric, Libé Rossella, Assié Guillaume, Ragazzon Bruno, Bertherat Jérôme

Abstract excerpt

PURPOSE: This study aimed to investigate the genetic cause of food-dependent Cushing syndrome (FDCS) observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) and adrenal ectopic expression of the glucose-dependent insulinotropic polypeptide receptor. Germline ARMC5 alterations have been reported in about 25% of PBMAH index cases but are absent in patients with FDCS. METHODS: A...

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PMID: 34906447
DOI: 10.1016/j.gim.2021.09.018

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