A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). Issue 11 (1st November 2000)

• Record Type: Journal Article
• Authors: Lafferty, Antony R; Torpy, David J; Stowasser, Michael; Taymans, Susan E; Lin, Jing Ping; Huggard, Philip; Gordon, Richard D; Stratakis, Constantine A
• Is Part Of: Journal of medical genetics. Volume 37:Issue 11(2000)
• Page Start: 831
• Page End: 835
• Publication Date: 2000-11-01
• Subjects: chromosome 7 -- aldosterone -- familial hyperaldosteronism type II -- hypertension; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.37.11.831
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Familial hyperaldosteronism type II (FH-II) is caused by adrenocortical hyperplasia or aldosteronoma or both and is frequently transmitted in an autosomal dominant fashion. Unlike FH type I (FH-I), which results from fusion of the CYP11B1 and CYP11B2 genes, hyperaldosteronism in FH-II is not glucocorticoid remediable. A large family with FH-II was used for a genome wide search and its members were evaluated by measuring the aldosterone:renin ratio. In those with an increased ratio, FH-II was confirmed by fludrocortisone suppression testing. After excluding most of the genome, genetic linkage was identified with a maximum two point lod score of 3.26 at θ=0, between FH-II in this family and the polymorphic markers D7S511, D7S517, and GATA24F03 on chromosome 7, a region that corresponds to cytogenetic band 7p22. This is the first identified locus for FH-II; its molecular elucidation may provide further insight into the aetiology of primary aldosteronism.