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

Oncotarget
Lucia Anna MuscarellaVito Guarnieri

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 CDC73 gene mutation. A novel genomic deletion of the first 10 exons of the CDC73 gene was found in a 3-generation HPT-JT family, confirmed by SNP array analysis. A classification tree built on the published data, showed the highest probability of having a CDC73 mutation in subjects with age at the onset < 41.5 years (44/47 subjects, 93.6%, had the mutation). Whereas the lowest probability was found in subjects with age at the onset ≥ 41.5 years and Ca2+ levels <13.96 mg/dL (7/20 subjects, 35.0...Continue Reading

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Citations

Dec 12, 2018·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Stephen J Marx, David Goltzman
May 16, 2020·International Journal of Endocrinology·Luigia CinqueVito Guarnieri
Mar 7, 2021·International Journal of Molecular Sciences·Giulia Stefania TavantiSabrina Corbetta
May 6, 2021·International Journal of Laboratory Hematology·Maria Stella De CandiaDomenico Pastore

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Methods Mentioned

BETA
hysterectomy
PCR
Assay

Software Mentioned

Primer Express
SAS
R ( CRAN ) Comprehensive R Archive Network ( CRAN )
RPART
Chromosome Analysis Suite
CytoScan HD Array

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