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Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism
Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inheritable form of hyperaldosteronism with early onset hypertension. GRA is caused by unequal crossing-over of the steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of chimeric gene duplicat...
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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The Korean Academy of Medical Sciences
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923798/ https://www.ncbi.nlm.nih.gov/pubmed/20808686 http://dx.doi.org/10.3346/jkms.2010.25.9.1379 |
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author | Lee, Ihn Suk Kim, Seul Young Jang, Hye Won Kim, Min Kyeong Lee, Ju Hee Lee, Yun Hyeong Jo, Young Suk |
author_facet | Lee, Ihn Suk Kim, Seul Young Jang, Hye Won Kim, Min Kyeong Lee, Ju Hee Lee, Yun Hyeong Jo, Young Suk |
author_sort | Lee, Ihn Suk |
collection | PubMed |
description | Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inheritable form of hyperaldosteronism with early onset hypertension. GRA is caused by unequal crossing-over of the steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of chimeric gene duplication, aldosterone is ectopically synthesized in the adrenal zona fasciculata under the control of adrenocorticotropin. Here, we describe three cases of GRA in a Korean family. The proband-a 21-yr-old female-was incidentally found to have high blood pressure (170/108 mmHg). Her 46-yr-old father had been treated twice for cerebral hemorrhage at the ages of 29 and 39 yr. Her 15-yr-old brother had a 2-yr history of hypertension; however, he was never treated. Their laboratory test results showed normokalemia, hyporeninemia, hyperaldosteronism, and a high plasma aldosterone concentration-to-plasma renin activity ratio. Normal saline loading failed to suppress aldosterone secretion. However, dexamethasone administration effectively suppressed their plasma aldosterone concentrations. Following genetic analyses with PCR and direct sequencing to document the chimeric gene and crossover site, respectively, we identified CYP11B1/CYP11B2 and determined the breakpoint of unequal crossover to be located between intron 2 of CYP11B1 and exon 3 of CYP11B2. |
format | Text |
id | pubmed-2923798 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-29237982010-09-01 Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism Lee, Ihn Suk Kim, Seul Young Jang, Hye Won Kim, Min Kyeong Lee, Ju Hee Lee, Yun Hyeong Jo, Young Suk J Korean Med Sci Case Report Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inheritable form of hyperaldosteronism with early onset hypertension. GRA is caused by unequal crossing-over of the steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of chimeric gene duplication, aldosterone is ectopically synthesized in the adrenal zona fasciculata under the control of adrenocorticotropin. Here, we describe three cases of GRA in a Korean family. The proband-a 21-yr-old female-was incidentally found to have high blood pressure (170/108 mmHg). Her 46-yr-old father had been treated twice for cerebral hemorrhage at the ages of 29 and 39 yr. Her 15-yr-old brother had a 2-yr history of hypertension; however, he was never treated. Their laboratory test results showed normokalemia, hyporeninemia, hyperaldosteronism, and a high plasma aldosterone concentration-to-plasma renin activity ratio. Normal saline loading failed to suppress aldosterone secretion. However, dexamethasone administration effectively suppressed their plasma aldosterone concentrations. Following genetic analyses with PCR and direct sequencing to document the chimeric gene and crossover site, respectively, we identified CYP11B1/CYP11B2 and determined the breakpoint of unequal crossover to be located between intron 2 of CYP11B1 and exon 3 of CYP11B2. The Korean Academy of Medical Sciences 2010-09 2010-08-14 /pmc/articles/PMC2923798/ /pubmed/20808686 http://dx.doi.org/10.3346/jkms.2010.25.9.1379 Text en © 2010 The Korean Academy of Medical Sciences. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Lee, Ihn Suk Kim, Seul Young Jang, Hye Won Kim, Min Kyeong Lee, Ju Hee Lee, Yun Hyeong Jo, Young Suk Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism |
title | Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism |
title_full | Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism |
title_fullStr | Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism |
title_full_unstemmed | Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism |
title_short | Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism |
title_sort | genetic analyses of the chimeric cyp11b1/cyp11b2 gene in a korean family with glucocorticoid-remediable aldosteronism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923798/ https://www.ncbi.nlm.nih.gov/pubmed/20808686 http://dx.doi.org/10.3346/jkms.2010.25.9.1379 |
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