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. 2000 Nov;37(11):831–835. doi: 10.1136/jmg.37.11.831

A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)

A Lafferty 1, D Torpy 1, M Stowasser 1, S Taymans 1, J P Lin 1, P Huggard 1, R Gordon 1, C Stratakis 1
PMCID: PMC1734468  PMID: 11073536

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.


Keywords: chromosome 7; aldosterone; familial hyperaldosteronism type II; hypertension

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Selected References

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