A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome
Germline mutations in the succinate dehydrogenase complex subunit D gene are now known to be associated with hereditary paraganglioma–pheochromocytoma syndromes. Since the initial succinate dehydrogenase complex subunit D gene mutation was identified about a decade ago, more than 131 unique variants...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2014-10-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X14553520 |
| _version_ | 1818158110090461184 |
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| author | Chaithra Prasad Gerard J Oakley Linwah Yip Christopher Coyne Balasubramanya Rangaswamy Sanjay B Dixit |
| author_facet | Chaithra Prasad Gerard J Oakley Linwah Yip Christopher Coyne Balasubramanya Rangaswamy Sanjay B Dixit |
| author_sort | Chaithra Prasad |
| collection | DOAJ |
| description | Germline mutations in the succinate dehydrogenase complex subunit D gene are now known to be associated with hereditary paraganglioma–pheochromocytoma syndromes. Since the initial succinate dehydrogenase complex subunit D gene mutation was identified about a decade ago, more than 131 unique variants have been reported. We report the case of two siblings presenting with multiple paragangliomas and pheochromocytomas; they were both found to carry a mutation in the succinate dehydrogenase complex subunit D gene involving a substitution of thymine to guanine at nucleotide 236 in exon 3. This particular mutation of the succinate dehydrogenase complex subunit D gene has only been reported in one previous patient in Japan; this is, therefore, the first report of this pathogenic mutation in siblings and the first report of this mutation in North America. With continued screening of more individuals, we will be able to create a robust mutation database that can help us understand disease patterns associated with particular variants and may be a starting point in the development of new therapies for familial paraganglioma syndromes. |
| first_indexed | 2024-12-11T15:24:52Z |
| format | Article |
| id | doaj.art-74d63e3fdfc2485f8d60c17079f9be9b |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-12-11T15:24:52Z |
| publishDate | 2014-10-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-74d63e3fdfc2485f8d60c17079f9be9b2022-12-22T01:00:14ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2014-10-01210.1177/2050313X1455352010.1177_2050313X14553520A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndromeChaithra Prasad0Gerard J Oakley1Linwah Yip2Christopher Coyne3Balasubramanya Rangaswamy4Sanjay B Dixit5Division of Endocrinology, Diabetes, and Metabolism, University of Pittsburgh Medical Center, Pittsburgh, PA, USADepartment of Pathology, Marshall University, Huntington, WV, USADivision of Endocrine Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USADivision of Endocrinology, Diabetes, and Metabolism, University of Pittsburgh Medical Center, Pittsburgh, PA, USADepartment of Radiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USADivision of Endocrinology, Diabetes, and Metabolism, University of Pittsburgh Medical Center, Pittsburgh, PA, USAGermline mutations in the succinate dehydrogenase complex subunit D gene are now known to be associated with hereditary paraganglioma–pheochromocytoma syndromes. Since the initial succinate dehydrogenase complex subunit D gene mutation was identified about a decade ago, more than 131 unique variants have been reported. We report the case of two siblings presenting with multiple paragangliomas and pheochromocytomas; they were both found to carry a mutation in the succinate dehydrogenase complex subunit D gene involving a substitution of thymine to guanine at nucleotide 236 in exon 3. This particular mutation of the succinate dehydrogenase complex subunit D gene has only been reported in one previous patient in Japan; this is, therefore, the first report of this pathogenic mutation in siblings and the first report of this mutation in North America. With continued screening of more individuals, we will be able to create a robust mutation database that can help us understand disease patterns associated with particular variants and may be a starting point in the development of new therapies for familial paraganglioma syndromes.https://doi.org/10.1177/2050313X14553520 |
| spellingShingle | Chaithra Prasad Gerard J Oakley Linwah Yip Christopher Coyne Balasubramanya Rangaswamy Sanjay B Dixit A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome SAGE Open Medical Case Reports |
| title | A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome |
| title_full | A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome |
| title_fullStr | A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome |
| title_full_unstemmed | A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome |
| title_short | A novel mutation in the succinate dehydrogenase subunit D gene in siblings with the hereditary paraganglioma–pheochromocytoma syndrome |
| title_sort | novel mutation in the succinate dehydrogenase subunit d gene in siblings with the hereditary paraganglioma pheochromocytoma syndrome |
| url | https://doi.org/10.1177/2050313X14553520 |
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