A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation.
Wilson
R C
RC
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
Krozowski
Z S
ZS
Li
K
K
Obeyesekere
V R
VR
Razzaghy-Azar
M
M
Harbison
M D
MD
Wei
J Q
JQ
Shackleton
C H
CH
Funder
J W
JW
New
M I
MI
D042842:11-beta-Hydroxysteroid Dehydrogenases; D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon; D003241:Consanguinity; D017931:DNA Primers; D005260:Female; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D008901:Mineralocorticoids / Q000097:blood*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D003062:Codon; D017931:DNA Primers; D007527:Isoenzymes; D008901:Mineralocorticoids; D006913:Hydroxysteroid Dehydrogenases; D042842:11-beta-Hydroxysteroid Dehydrogenases