| Autor: |
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. |
| Předmět: |
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| Zdroj: |
Annals of the New York Academy of Sciences; Jul2016, Vol. 1376 Issue 1, p65-71, 7p, 1 Diagram, 2 Charts |
| 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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