title: Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
abstract: Four deleterious mutations are described in the gene for HSD11B2, which encodes the type 2 isoenzyme of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD2). In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a deficiency in 11 beta HSD2. Surprisingly, the patients are all homozygous for their mutation. This results from consanguinity in two families and possibly from endogamy or a founder effect in four of the other five families. The absence of compound heterozygotes remains to be investigated.
authors.affiliation: Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
authors.forename: R C
authors.initials: RC
authors.lastname: Wilson
authors.forename: M D
authors.initials: MD
authors.lastname: Harbison
authors.forename: Z S
authors.initials: ZS
authors.lastname: Krozowski
authors.forename: J W
authors.initials: JW
authors.lastname: Funder
authors.forename: C H
authors.initials: CH
authors.lastname: Shackleton
authors.forename: H M
authors.initials: HM
authors.lastname: Hanauske-Abel
authors.forename: J Q
authors.initials: JQ
authors.lastname: Wei
authors.forename: J
authors.initials: J
authors.lastname: Hertecant
authors.forename: A
authors.initials: A
authors.lastname: Moran
authors.forename: R E
authors.initials: RE
authors.lastname: Neiberger
mesh_terms: D042842:11-beta-Hydroxysteroid Dehydrogenases; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D005796:Genes; D006720:Homozygote; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics*; D008901:Mineralocorticoids / Q000378:metabolism*; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D008901:Mineralocorticoids; D006913:Hydroxysteroid Dehydrogenases; D042842:11-beta-Hydroxysteroid Dehydrogenases