A novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 11, 2013, Pages

  Monticone, Silvia ^a,b   Hattangady, Namita G ^b,c   Penton, David ^d,e   Isales, Carlos M ^b   Edwards, Michael A ^b   Williams, Tracy A ^a   Sterner, Christina ^d   Warth, Richard ^d   Mulatero, Paolo ^a   Rainey, William E ^b,c  

^a UNIVERSITY OF TURIN   (Italy)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e Laboratory of Excellence Ion Channel Science and Therapeutics   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; ANTIHYPERTENSIVE AGENT; CYSTEINE; NIFEDIPINE; NUCLEAR RECEPTOR RELATED FACTOR 1; POTASSIUM; SODIUM ION; TYROSINE;

ADRENAL CELL; ADRENALECTOMY; ADULT; ALDOSTERONE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM CELL LEVEL; CASE REPORT; CELL MEMBRANE DEPOLARIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; EXON; FAMILIAL HYPERALDOSTERONISM TYPE III; FEMALE; GENE; GENE EXPRESSION; GENE SEQUENCE; HEADACHE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERALDOSTERONISM; HYPOKALEMIA; IN VITRO STUDY; KCNJ5 GENE; KIDNEY FAILURE; NAUSEA; PLASMA RENIN ACTIVITY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; RESISTANT HYPERTENSION; VOMITING;

ADENOMA; ADRENAL GLAND NEOPLASMS; ADRENALECTOMY; ALDOSTERONE SYNTHASE; CALCIUM; FAMILY HEALTH; FEMALE; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HEK293 CELLS; HUMANS; HYPERALDOSTERONISM; MIDDLE AGED; POINT MUTATION;

EID: 84887447941     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2428     Document Type: Article

References (8)

1. Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA. Role of KCNJ5 in familial and sporadic primary aldosteronism. Nat Rev Endocrinol. 2013;9: 104-112.
2. Geller DS, Zhang J, Wisgerhof MV, Shackleton C, Kashgarian M, Lifton RP.Anovel form of human mendelian hypertension featuring nonglucocorticoid- remediable aldosteronism. J Clin Endocrinol Metab. 2008;93: 3117-3123.
3. Choi M, Scholl UI, Yue P, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 2011;331: 768-772.
4. Mulatero P, Tauber P, Zennaro MC, et al. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension. 2012;59: 235-240.
5. Scholl UI, Nelson-Williams C, Yue P, et al. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci USA. 2012;109: 2533-2538.
6. Charmandari E, Sertedaki A, Kino T, et al. A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and earlyonset autosomal dominant hypertension. J Clin Endocrinol Metab. 2012;97:E1532-E1539.
7. Oki K, Plonczynski MW, Luis Lam M, Gomez-Sanchez EP, Gomez- Sanchez CE. Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis. Endocrinology. 2012;153: 1774-1782.
8. Monticone S, Hattangady NG, Nishimoto K, et al. Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells. J Clin Endocrinol Metab. 2012;97:E1567- E1572.