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A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred

Yau, M; Al Azkawi, HS; Haider, S; Khattab, A; Al Badi, M; Abdullah, W; Al Senani, A; ... New, MI; + view all (2016) A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. Annals of the New York Academy of Sciences , 1376 pp. 65-71. 10.1111/nyas.13162. Green open access

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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.

Type: Article
Title: A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/nyas.13162
Publisher version: http://dx.doi.org/10.1111/nyas.13162
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy > SoP Pharmaceutical and Bio Chemistry
URI: https://discovery.ucl.ac.uk/id/eprint/10044444
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