Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B
Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2015/510985 |
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| author | Marianne S. Elston Goswin Y. Meyer-Rochow Michael Dray Michael Swarbrick John V. Conaglen |
| author_facet | Marianne S. Elston Goswin Y. Meyer-Rochow Michael Dray Michael Swarbrick John V. Conaglen |
| author_sort | Marianne S. Elston |
| collection | DOAJ |
| description | Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novel CDKN1B germline mutation (heterozygote for a missense mutation in exon 1 of the CDKN1B gene (c.378G>C) (p.E126D)). The implication from this case is that CDKN1B germline mutations may be associated with PHPT at an earlier age than previously thought. |
| format | Article |
| id | doaj-art-95a68c7df7bb4d198df3e1cedf479082 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-95a68c7df7bb4d198df3e1cedf4790822025-02-03T01:13:12ZengWileyCase Reports in Endocrinology2090-65012090-651X2015-01-01201510.1155/2015/510985510985Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1BMarianne S. Elston0Goswin Y. Meyer-Rochow1Michael Dray2Michael Swarbrick3John V. Conaglen4Department of Endocrinology, Waikato Hospital, Private Bag 3200, Hamilton 3240, New ZealandFaculty of Medicine and Health Sciences, University of Auckland, Waikato Clinical Campus, Private Bag 3200, Hamilton 3240, New ZealandDepartment of Pathology, Waikato Hospital, Private Bag 3200, Hamilton 3240, New ZealandDepartment of Radiology, Waikato Hospital, Private Bag 3200, Hamilton 3240, New ZealandFaculty of Medicine and Health Sciences, University of Auckland, Waikato Clinical Campus, Private Bag 3200, Hamilton 3240, New ZealandIndividuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novel CDKN1B germline mutation (heterozygote for a missense mutation in exon 1 of the CDKN1B gene (c.378G>C) (p.E126D)). The implication from this case is that CDKN1B germline mutations may be associated with PHPT at an earlier age than previously thought.http://dx.doi.org/10.1155/2015/510985 |
| spellingShingle | Marianne S. Elston Goswin Y. Meyer-Rochow Michael Dray Michael Swarbrick John V. Conaglen Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B Case Reports in Endocrinology |
| title | Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B |
| title_full | Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B |
| title_fullStr | Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B |
| title_full_unstemmed | Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B |
| title_short | Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B |
| title_sort | early onset primary hyperparathyroidism associated with a novel germline mutation in cdkn1b |
| url | http://dx.doi.org/10.1155/2015/510985 |
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