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J Med Genet 2000;37:831-835 doi:10.1136/jmg.37.11.831
  • Original article

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

  1. Antony R Lafferty*,a,
  2. David J Torpyb,
  3. Michael Stowasserb,
  4. Susan E Taymansa,
  5. Jing Ping Linc,
  6. Philip Huggardb,
  7. Richard D Gordonb,
  8. Constantine A Stratakisa
  1. aUnit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Building 10, Room 10N262, 10 Center Drive, MSC1862, Bethesda, Maryland 20892-1862, USA, bDepartment of Medicine, The University of Queensland, Greenslopes Hospital, Brisbane, Queensland 4120, Australia, cOffice of Biostatistics Research, Division of Epidemiology and Clinical Applications, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
  1. Dr Stratakis, stratakc{at}cc1.nichd.nih.gov
  • Revised 14 September 2000
  • Accepted 14 September 2000

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 andCYP11B2 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.

Footnotes

  • ↵* Present address: Monash University, Department of Paediatrics, Monash Medical Centre, 246 Clayton Road, Clayton, Victoria 3168, Australia

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