Article
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred.
Annals of the New York Academy of Sciences - 1 Jul 2016
Yau Mabel, Azkawi Hanan Said Al, Haider Shozeb, Khattab Ahmed, Badi Maryam Al, Abdullah Wafa, Senani Aisha Al, Wilson Robert C, Yuen Tony, Zaidi Mone, New Maria I
Abstract excerpt
Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2), which is encoded by HSD11B2. Without treatment, chronic hypertension leads to early development of end-organ damage. Approximately 40 causative mutations in HSD11B2 have been identified in ∼100 AME patients...
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