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

Journal Article · Sun Oct 01 00:00:00 EDT 1995 · Journal of Clinical Endocrinology and Metabolism

DOI:https://doi.org/10.1210/jc.80.11.3145· OSTI ID:443617

Wilson, R C; Harbison, M D; Hanauske-Abel, H M; Licholai, T ^[1]

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1. New York Hospital-Cornell Medical Center, New York, NY (United States); and others

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 mineralocortiocoid 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. 25 refs., 3 figs., 2 tabs.

• OSTI ID: 443617
• Journal Information: Journal of Clinical Endocrinology and Metabolism, Journal Name: Journal of Clinical Endocrinology and Metabolism Journal Issue: 10 Vol. 80; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
DNA SEQUENCING
DNA-CLONING
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
ISOENZYMES
METABOLIC DISEASES
MINERALOCORTICOIDS
PATIENTS