11beta-Hydroxysteroid dehydrogenase type 2 (11beta-HSD2) plays a crucial role in converting hormonally active cortisol to inactive cortisone, thereby conferring specificity upon the mineralocorticoid receptor (MR). Mutations in the gene encoding 11beta-HSD2 (HSD11B2) account for an inherited form of hypertension, the-syndrome of "Apparent Mineralocorticoid Excess" (AME) where cortisol induces hypertension and hypokalaemia. We report five different mutations in the HSD11B2 gene in four families from Oman with a total of 9 affected children suffering front AME. Sequence data demonstrate the previously described L114Delta6nt mutation in exon 2 and new mutations in exon 3 (A221V), exon 5 (V322ins9nt) and for the first time in exon 1 (R74G and P75lnt) of the HSD11B2 gene. These additional mutations provide further insight into AME and the function of the 11p-HSD2 enzyme. The prevalence of monogenic forms of hypertension such as AME remains uncertain. However. our data suggests AME may be a relevant cause of hypertension in certain ethnic groups, such as the Oman population. (C) 2003 Elsevier Ireland Ltd. All rights reserved.
- AME syndrome