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

Autor: Yau M; Department of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. mabel.yau@mssm.edu., Azkawi HS; Department of Pediatrics, The Royal Hospital, Muscat, Oman., Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, United Kingdom., Khattab A; Department of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai, New York, New York., Badi MA; Department of Pediatrics, The Royal Hospital, Muscat, Oman., Abdullah W; Department of Pediatrics, The Royal Hospital, Muscat, Oman., Senani AA; Department of Pediatrics, The Royal Hospital, Muscat, Oman., Wilson RC; Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina., Yuen T; Department of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai, New York, New York., Zaidi M; Department of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai, New York, New York., New MI; Department of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Jazyk: angličtina
Zdroj: Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 2016 Jul; Vol. 1376 (1), pp. 65-71. Date of Electronic Publication: 2016 Aug 15.
DOI: 10.1111/nyas.13162
Abstrakt: 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.
(© 2016 New York Academy of Sciences.)
Databáze: MEDLINE
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