Article
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
Nature genetics - 1 Jun 2023
Wu Xilin, Azizan Elena A B, Goodchild Emily, Garg Sumedha, Hagiyama Man, Cabrera Claudia P, Fernandes-Rosa Fabio L, Boulkroun Sheerazed, Kuan Jyn Ling, Tiang Zenia, David Alessia, Murakami Masanori, Mein Charles A, Wozniak Eva, Zhao Wanfeng, Marker Alison, Buss Folma, Saleeb Rebecca S, Salsbury Jackie, Tezuka Yuta, Satoh Fumitoshi, Oki Kenji, Udager Aaron M, Cohen Debbie L, Wachtel Heather, King Peter J, Drake William M, Gurnell Mark, Ceral Jiri, Ryska Ales, Mustangin Muaatamarulain, Wong Yin Ping, Tan Geok Chin, Solar Miroslav, Reincke Martin, Rainey William E, Foo Roger S, Takaoka Yutaka, Murray Sandra A, Zennaro Maria-Christina, Beuschlein Felix, Ito Akihiko, Brown Morris J
Abstract excerpt
Aldosterone-producing adenomas (APAs) are the commonest curable cause of hypertension. Most have gain-of-function somatic mutations of ion channels or transporters. Herein we report the discovery, replication and phenotype of mutations in the neuronal cell adhesion gene CADM1. Independent whole exome sequencing of 40 and 81 APAs found intramembranous p.Val380Asp or p.Gly379Asp variants in two patients whose...
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