Familial isolated primary hyperparathyroidism/hyperparathyroidism‐jaw tumour syndrome caused by germline gross deletion or point mutations of <i><scp>CDC</scp>73</i> gene in Chinese

Kong, Jing; Wang, Ou; Nie, Min; Shi, Jie; Hu, Yingying; Jiang, Yan; Li, Mei; Xia, Weibo; Meng, Xunwu; Xing, Xiaoping

doi:10.1111/cen.12461

Cited by 25 publications

(10 citation statements)

References 35 publications

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“…The CDC73 gene mutation is related to sporadic parathyroid carcinoma and HPT‐JT syndrome with a relatively high rate of parathyroid carcinoma, which is one of the main reasons for persistent or recurrent PHPT and may lead to life‐threatening hypercalcaemia . Previous studies of CDC73 gene screening in children have been limited to case reports; therefore, the present study is the largest study incorporating CDC73 gene analysis that focused solely on paediatric PHPT.…”

Section: Discussionmentioning

confidence: 99%

“…Genomic DNA was extracted from peripheral blood lymphocytes of 24 paediatric patients using the QIAamp blood DNA kit (Qiagen, Hilden, Germany). All coding exons and exon‐intron boundaries of the MEN1 , CDKN1B , CDC73 and CaSR genes and exons 8, 10‐11 and 13‐16 of the RET gene were amplified by polymerase chain reaction (PCR) with primers as previously described . Direct sequencing of PCR products was performed using a TaqBig Dye terminator sequencing kit and an ABI3730 automated sequencer (Applied Biosystems, Foster City, CA, USA).…”

Section: Methodsmentioning

confidence: 99%

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Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Wang

Kong

Nie

et al. 2017

Clinical Endocrinology

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Wang

Kong

Nie

et al. 2017

Clinical Endocrinology

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“…In a previous study conducted at our center, 22 patients from four FIHP/ HPT-JT families were recruited. Genetic analysis revealed 3 point mutations and one gross deletion (exon 4-6) of CDC73 [16]. In a systematic review of 153 FIHP kindreds that receiving genetic testing, 15% carried mutations of CDC73 [28].…”

Section: Discussionmentioning

confidence: 99%

A Novel Long-Range Deletion Spanning CDC73 and Upper-Stream Genes Discovered in a Kindred of Familial Primary Hyperparathyroidism

Yang

Song

Nie

et al. 2021

Preprint

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PurposeTo confirm the exact break-point of a novel long-range deletion discovered in one female parathyroid carcinoma (PC) patient who has a strong family history suggesting familial hyperparathyroidism, and to investigate the expression of parafibromin in the patient’s affected lesion.MethodsClinical information of one female patient as well as five of her relatives were collected. Their genomic DNA extracted from peripheral blood went through Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). After completing whole genome sequencing (WGS), clone sequencing was also performed, whose result was aligned with standard human genome database after Sanger sequencing.ResultsThe medical history of recurrent hypercalcemia after parathyroidectomy and histopathological investigation confirmed that the female patient with the diagnosis of PC. WGS displayed a novel 130kb long-range deletion spanning UCHL5 to CDC73 which was later confirmed by clone sequencing. MLPA showed similar results in four of her five relatives, suggesting these people to be carriers of the same long-range deletion, and three among them had a history of primary hyperparathyroidism (PHPT) ahead of the proband’s first visit.ConclusionWe discovered a novel 130kb long-range deletion spanning CDC73 in a family of five-person, and the existence of the deletion was related to PHPT and PC. Our discovery validated the role of CDC73 mutation in the occurrence of PHPT and PC, which provided new information to the genetic studies of PC.

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“…All 17 exons and exon‐intron boundaries of the CDC73 gene were amplified by PCR with a StepOnePlus PCR System (Applied Biosystems, Foster City, California). Primers were designed as previously described 13 . Sanger sequencing was performed using an ABI 3730xl automated DNA sequencer (Applied Biosystems).…”

Section: Methodsmentioning

confidence: 99%

The genomic profile of parathyroid carcinoma based on whole‐genome sequencing

Zhang

Wang

et al. 2020

Intl Journal of Cancer

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Parathyroid carcinoma (PC) is a rare endocrine malignancy with poor outcomes. Although some mutations such as CDC73 have been found in patients, the molecular mechanism of PC still needs extensive data to clarify. Whole‐genome sequencing (WGS) was performed with frozen samples from 23 PC patients. Peripheral leukocytes were collected from 14 patients and served as controls. Somatic and germline gene alterations, copy number abnormalities and structural variants were detected. Inactivating CDC73 mutations were identified in 39.1% of patients, but only one germline inactivating mutation was found. Other cancer‐related mutations identified in more than one case were MAF (2/23), NEB (6/23), NCOR1 (2/23), TTK (2/23), GRIN3A (4/23), TRIO (2/23), MAP1B (2/23), TJP2 (2/23) and FAM20A (2/23). In the seven wild‐type CDC73 samples, the mutated genes were enriched in pathways involving antigen presentation, allograft rejection or autoimmune disease. More copy number variants were found in patients with cancer recurrence (P = .006) and CDC73 mutations (P = .022) than in those without these characteristics. PIK3CA loss was found in one sample, which also harboured a CDC73 mutation. Gene alterations in the PI3K/AKT/mTOR pathway were found in 78.3% (18/23) of tumours. The most prominent cancer‐predisposing mutations were PDE4DIP (15/23), MAP3K1 (13/23) and CDC42EP1 (10/23). In conclusion, the PI3K/AKT/mTOR pathway may be pivotal in PC. CDC73 mutation correlated with an increased mutational burden and tumour relapse. PC patients with wild‐type CDC73 harboured mutations relevant to antigen presentation and autoimmune diseases. A molecular classification based on the CDC73 mutation may help to manage follow‐up and therapy for PC patients.

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Familial isolated primary hyperparathyroidism/hyperparathyroidism‐jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese

Abstract: This study supplies information on mutations and phenotypes of HPT-JT/FIHP syndrome in Chinese. Screening for gross deletion and point mutations of the CDC73 gene is necessary in susceptible subjects.

Cited by 25 publications

References 35 publications

Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

A Novel Long-Range Deletion Spanning CDC73 and Upper-Stream Genes Discovered in a Kindred of Familial Primary Hyperparathyroidism

The genomic profile of parathyroid carcinoma based on whole‐genome sequencing

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