Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism.
10.3760/cma.j.issn.1003-9406.2018.06.014
- Author:
Yuqiang LYU
1
;
Ning XUE
;
Kaihui ZHANG
;
Junjie XU
;
Yi LIU
;
Zhongtao GAI
Author Information
1. Pediatrics Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. gaizhongtao@sina.com.
- Publication Type:Case Reports
- MeSH:
Child;
Congenital Hypothyroidism;
diagnosis;
genetics;
Dual Oxidases;
genetics;
High-Throughput Nucleotide Sequencing;
Humans;
Male;
Mutation, Missense
- From:
Chinese Journal of Medical Genetics
2018;35(6):836-839
- CountryChina
- Language:Chinese
-
Abstract:
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.
