Several homozygous mutations in the gene for 11 be...[J Clin Endocrinol Metab. 1995]

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1: J Clin Endocrinol Metab. 1995 Nov;80(11):3145-50. Links

Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

Wilson RC, Harbison MD, Krozowski ZS, Funder JW, Shackleton CH, Hanauske-Abel HM, Wei JQ, Hertecant J, Moran A, Neiberger RE, et al.

Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.

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.

PMID: 7593417 [PubMed - indexed for MEDLINE]

Human hypertension caused by mutations in the 11 beta-hydroxysteroid dehydrogenase gene: a molecular analysis of apparent mineralocorticoid excess.
J Hypertens Suppl. 1996 Dec; 14(5):S19-24.

[J Hypertens Suppl. 1996]
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
J Clin Endocrinol Metab. 2003 Jun; 88(6):2501-7.

[J Clin Endocrinol Metab. 2003]
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
J Clin Endocrinol Metab. 1997 Dec; 82(12):4054-8.

[J Clin Endocrinol Metab. 1997]
ReviewA genetic defect resulting in mild low-renin hypertension.
Proc Natl Acad Sci U S A. 1998 Aug 18; 95(17):10200-5.

[Proc Natl Acad Sci U S A. 1998]
ReviewGenetic analysis of 11 beta-hydroxysteroid dehydrogenase.
Steroids. 1994 Feb; 59(2):111-5.

[Steroids. 1994]
» See reviews... | » See all...

Cited by 3 PubMed Central articles

Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
New MI, Wilson RC. Proc Natl Acad Sci U S A. 1999 Oct 26; 96(22):12790-7.

[Proc Natl Acad Sci U S A. 1999]
ReviewA genetic defect resulting in mild low-renin hypertension.
Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, et al. Proc Natl Acad Sci U S A. 1998 Aug 18; 95(17):10200-5.

[Proc Natl Acad Sci U S A. 1998]
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess.
Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM. Am J Hum Genet. 1998 Aug; 63(2):370-9.

[Am J Hum Genet. 1998]

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Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

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Cited by 3 PubMed Central articles

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