Related Experiment Video
Updated: Nov 30, 2025
Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
Published on: July 14, 2023
[Clinical and genetic analysis of a child with neonatal severe parathyroidism]
Qian Dong1, Fuying Song, Mu Du
1Department of Endocrinology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. xiaobochen6362@163.com.
Objective:
To explore the genetic basis for a child with neonatal severe hyperparathyroidism.
Methods:
Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing.
Results:
The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene. The c.179G>A variant was derived from her mother and was unreported previously. The c.1525G>A variant was derived from her father and known to be pathogenic.
Conclusion:
The compound heterozygous variants of c.179G>A and c.1525G>A of the CaSR gene probably underlie the disease in the patient. The results of genetic testing has enabled diagnosis and genetic counseling for her family.
More Related Videos
07:13Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
Published on: March 14, 2017
07:12Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging
Published on: August 17, 2022
Related Concept Videos
00:59The Parathyroid Glands
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
00:51Synthesis and Functions of Calcitonin
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption