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A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
Haukeland Hosp, Norway; Univ Bergen, Norway; Univ Bergen, Norway.
Haukeland Hosp, Norway.
Klin Chirurg and Zentrum Minimal Invas Chirurg, Germany.
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2019 (English)In: European Journal of Endocrinology, ISSN 0804-4643, E-ISSN 1479-683X, Vol. 181, no 5, p. K37-K41Article in journal (Refereed) Published
Abstract [en]

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 (CIC-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.

Place, publisher, year, edition, pages
BIOSCIENTIFICA LTD , 2019. Vol. 181, no 5, p. K37-K41
National Category
Surgery
Identifiers
URN: urn:nbn:se:liu:diva-162890DOI: 10.1530/EJE-19-0377ISI: 000500254600004PubMedID: 31491746OAI: oai:DiVA.org:liu-162890DiVA, id: diva2:1382230
Note

Funding Agencies|ALF Grants, Region Ostergotland; LiU cancer; Norwegian Cancer SocietyNorwegian Cancer Society; Western Norway Regional Health Authority (Helse Vest RHF)

Available from: 2020-01-02 Created: 2020-01-02 Last updated: 2021-12-28

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Söderkvist, Peter

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Dutta, Ravi KumarSöderkvist, PeterGimm, Oliver
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European Journal of Endocrinology
Surgery

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CiteExportLink to record
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Citation style
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