A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. Issue 1 (15th August 2016)

• Record Type: Journal Article
• Authors: 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.
• Other Names: Zaidi Mone guestEditor.
• Is Part Of: Annals of the New York Academy of Sciences. Volume 1376:Issue 1(2016)
• Page Start: 65
• Page End: 71
• Publication Date: 2016-08-15
• Subjects: low‐renin hypertension -- molecular genetics -- computational modeling -- in silico mutation analysis; Medical sciences -- Periodicals; Medicine -- Periodicals; Science -- Periodicals; 610
• DOI: 10.1111/nyas.13162
• Languages: English
• ISSNs: 0077-8923

Abstract

Abstract : 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 worldwide. We have studied the clinical presentation, biochemical parameters, and molecular genetics in six patients from a consanguineous Omani family with AME. DNA sequence analysis of affected members of this family revealed homozygous c.799A>G mutations within exon 4 of HSD11B2, corresponding to a p.T267A mutation of 11βHSD2. The structural change and predicted consequences owing to the p.T267A mutation have been modeled in silico . We conclude that this novel mutation is responsible for AME in this family.