Related Experiment Video
Updated: Feb 1, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
[Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism]
Yuqiang Lyu1, Ning Xue, Kaihui Zhang
1Pediatrics Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. gaizhongtao@sina.com.
Objective:
To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism.
Methods:
DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software.
Results:
Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father.
Conclusion:
The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Related Concept Videos
Histone Variants at the Centromere
Patient-centered Care
Drug Dosing: Geriatric Patients
Drug Dosing: Obese Patients
Pharmacodynamics in Geriatric Patients: Effects of Age
Pharmacokinetics in Pediatric Patients: Drug Excretion

