CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases
| Autor: | E O Mamedova, N G Mokrysheva, E A Pigarova, E G Przhiyalkovskaya, I A Voronkova, E V Vasilyev, V M Petrov, V A Gorbunova, L Ya Rozhinskaya, Zh E Belaya, A N Tyulpakov |
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| Jazyk: | ruština |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Терапевтический архив, Vol 88, Iss 10, Pp 57-62 (2016) |
| Druh dokumentu: | article |
| ISSN: | 0040-3660 2309-5342 |
| DOI: | 10.17116/terarkh201688657-62 |
| Popis: | The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppressor gene CDC73 encoding parafibromin (p.R91X and p.Q166X) were identified using next-generation sequencing with Ion Torrent Personal Genome Machine (Thermo Fisher Scientific — Life Technologies, USA). It is the first description of CDC73 mutations in Russia, one of the mutations is described for the first time in the world. Identification of germline mutations in the CDC73 gene in patients with PHPT necessitates regular lifelong screening for other manifestations of hyperparathyroidism-jaw tumor syndrome (HPT-JT), PHPT recurrence due to parathyroid carcinoma as well, and identification of mutation carriers among first-degree relatives. |
| Databáze: | Directory of Open Access Journals |
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