Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

ABSTRACT: The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the CDC73 gene: it has been suggested that early onset of the disease and high Ca²⁺ levels may predict the presence of a CDC73 mutation. We searched for large deletions at the CDC73 locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. A Medline search in database for all the papers reporting a CDC73 gene mutation, clinical/histological diagnosis, age at onset, Ca²⁺, PTH levels for familial/sporadic cases was conducted with the aim to possibly identify biochemical/clinical markers predictive, in first diagnosis, of the presence of a <

SUBMITTER: Muscarella LA 

PROVIDER: S-EPMC5945533 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature