A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features
| العنوان: | A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features |
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| المؤلفون: | Antoine Braconnier, Dominique Zachar, Sophie Deguelte, Lucie Coppin, Céline Poirsier, Marta Spodenkiewicz, Lauriane Le Collen, Camille Boulagnon, Sébastien Aubert, Marie Françoise Odou, Pierre François Souchon, Sara Barraud, Brigitte Delemer |
| المساهمون: | Centre de Recherche en Sciences et Technologies de l'Information et de la Communication - EA 3804 (CRESTIC), Université de Reims Champagne-Ardenne (URCA) |
| المصدر: | Endocrine Endocrine, Springer, 2021, 73, pp.693-701. ⟨10.1007/s12020-021-02756-4⟩ |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adenoma, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Fibroma, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Germline mutation, medicine, Humans, Family, ComputingMilieux_MISCELLANEOUS, Parathyroid adenoma, Sequence Deletion, Hyperparathyroidism, business.industry, Tumor Suppressor Proteins, Exons, medicine.disease, Penetrance, Jaw Neoplasms, Hyperparathyroidism-Jaw Tumor Syndrome, 3. Good health, Parathyroid carcinoma, 030220 oncology & carcinogenesis, Neoplasm Recurrence, Local, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Kidney disease |
| الوصف: | We described the phenotype of a large 4-generation family with Hyperparathyrodism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3 of the CDC73 gene. We collected medical, genetic data on 24 family members descended from a common ancestor carrying a heterozygous deletion of exon 3. Thirteen carried the deletion, the penetrance was estimated at 50% at 40 years. Seven patients (39 ± 14.5 years) presented with HPT which could start at 13. Median plasmatic calcium and PTH levels were 3.13 ± 0.7 mmol/L and 115 ± 406 pg/ml, respectively. Kidney disease related to hypercalcemia were present in 57.1% of patients. All seven patients underwent surgery to remove a single parathyroid adenoma. One recurrence occurred 7 years post-surgery. No parathyroid carcinoma has been found to date. We found two atypical parathyroid adenomas. We described an additional somatic variant in exon 1 of gene CDC73 in two tumors. Jaw tumors were not necessarily associated with hyperparathyroidism, as shown in one case. Two kidney cysts were also reported. Variable phenotype expressivity was emphasized by clinical presentations in 2 monozygotic twins: acute hypercalcemia, kidney failure and ossifying fibroma in one twin, versus normocalcemic parathyroid adenoma in the other one. We report a family carrier of a deletion of exon 3 of the CDC73 gene. This is characterized by a high level of hypercalcemia, deleterious kidney effects and atypical parathyroid adenomas without carcinomas. Onset and intensity of HPT remain unpredictable. The additional somatic mutation found in the parathyroid tumor could lead to these phenotypical variations. |
| تدمد: | 1559-0100 0969-711X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85f93b50538820be21def9054d01246Test https://pubmed.ncbi.nlm.nih.gov/33999366Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....f85f93b50538820be21def9054d01246 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15590100 0969711X |
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