title: A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22).
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 theta=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.
authors.affiliation: Unit 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.
authors.forename: A R
authors.initials: AR
authors.lastname: Lafferty
authors.forename: D J
authors.initials: DJ
authors.lastname: Torpy
authors.forename: M
authors.initials: M
authors.lastname: Stowasser
authors.forename: S E
authors.initials: SE
authors.lastname: Taymans
authors.forename: J P
authors.initials: JP
authors.lastname: Lin
authors.forename: P
authors.initials: P
authors.lastname: Huggard
authors.forename: R D
authors.initials: RD
authors.lastname: Gordon
authors.forename: C A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D002871:Chromosome Banding; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D006929:Hyperaldosteronism / Q000097:blood / Q000235:genetics*; D006973:Hypertension / Q000097:blood*; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D012083:Renin / Q000097:blood*
chemical_list: D004247:DNA; D012083:Renin