Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
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.
Wilson
R C
RC
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
Harbison
M D
MD
Krozowski
Z S
ZS
Funder
J W
JW
Shackleton
C H
CH
Hanauske-Abel
H M
HM
Wei
J Q
JQ
Hertecant
J
J
Moran
A
A
Neiberger
R E
RE
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
D008901:Mineralocorticoids; D006913:Hydroxysteroid Dehydrogenases; D042842:11-beta-Hydroxysteroid Dehydrogenases