Ravi Kumar Dutta1, Thomas Arnesen2,3,4, Anette Heie2, Martin Walz5, Piero Alesina5, Peter Söderkvist1, Oliver Gimm1,6. 1. Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden. 2. Department of Surgery, Haukeland University Hospital, Bergen, Norway. 3. Department of Biological Sciences, University of Bergen, Bergen, Norway. 4. Department of Biomedicine, University of Bergen, Bergen, Norway. 5. Klinik für Chirurgie and Zentrum für Minimal Invasive Chirurgie, Essen, Germany. 6. Department of Surgery, Region Östergötland, Linköping, Sweden.
Abstract
OBJECTIVE: To screen for CLCN2 mutations in apparently sporadic cases of aldosterone-producing adenomas (APAs). DESCRIPTION: Recently, CLCN2, encoding for the voltage-gated chloride channel protein 2 (ClC-2), was identified to be mutated in familial hyperaldosteronism II (FH II). So far, somatic mutations in CLCN2 have not been reported in sporadic cases of APAs. We screened 80 apparently sporadic APAs for mutations in CLCN2. One somatic mutation was identified at p.Gly24Asp in CLCN2. The male patient had a small adenoma in size but high aldosterone levels preoperatively. Postoperatively, the patient had normal aldosterone levels and was clinically cured. CONCLUSION: In this study, we identified a CLCN2 mutation in a sporadic APA comprising about 1% of all APAs investigated. This mutation was complementary to mutations in other susceptibility genes for sporadic APAs and may thus be a driving mutation in APA formation.
OBJECTIVE: To screen for CLCN2 mutations in apparently sporadic cases of aldosterone-producing adenomas (APAs). DESCRIPTION: Recently, CLCN2, encoding for the voltage-gated chloride channel protein 2 (ClC-2), was identified to be mutated in familial hyperaldosteronism II (FH II). So far, somatic mutations in CLCN2 have not been reported in sporadic cases of APAs. We screened 80 apparently sporadic APAs for mutations in CLCN2. One somatic mutation was identified at p.Gly24Asp in CLCN2. The male patient had a small adenoma in size but high aldosterone levels preoperatively. Postoperatively, the patient had normal aldosterone levels and was clinically cured. CONCLUSION: In this study, we identified a CLCN2 mutation in a sporadic APA comprising about 1% of all APAs investigated. This mutation was complementary to mutations in other susceptibility genes for sporadic APAs and may thus be a driving mutation in APA formation.
Authors: Zeng Guo; Kazutaka Nanba; Aaron Udager; Brett C McWhinney; Jacobus P J Ungerer; Martin Wolley; Moe Thuzar; Richard D Gordon; William E Rainey; Michael Stowasser Journal: J Clin Endocrinol Metab Date: 2020-09-01 Impact factor: 5.958
Authors: Samuel W Plaska; Chia-Jen Liu; Jung Soo Lim; Juilee Rege; Nolan R Bick; Antonio M Lerario; Gary D Hammer; Thomas J Giordano; Tobias Else; Scott A Tomlins; William E Rainey; Aaron M Udager Journal: Horm Metab Res Date: 2020-08-13 Impact factor: 2.936