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

Robert C. Wilson, Madeleine D. Harbison, Zygmunt S. Krozowski, John W. Funder, Cedric H.L. Shackleton, Hartmut M. Hanauske-Abel, Ji Qing Wei, Jos Hertecant, Antoinette Moran, Richard E. Neiberger, J. Williamson Balfe, Abduhl Fattah, Denis Daneman, Teresa Licholai, Maria I. New

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Abstract

Four deleterious mutations are described in the gene for HSD11B2, which encodes the type 2 isoenzyme of 11 β-hydroxysteroid dehydrogenase (11 β 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 β 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.

Original languageEnglish (US)
Pages (from-to)3145-3150
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume80
Issue number11
DOIs
StatePublished - Nov 1995

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