TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China.
- Author:
Chun-Hui SUN
1
;
Wen-Miao LIU
;
Miao-Miao LI
;
Hui ZOU
;
Shi-Guo LIU
;
Fang WANG
Author Information
1. Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong 266100, China. 18660291711@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
China;
Congenital Hypothyroidism;
genetics;
DNA Mutational Analysis;
Humans;
Mutation;
Thyroid Dysgenesis;
genetics;
Tubulin;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(10):972-976
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China.
METHODS:Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes. PCR multiplication was performed for the whole coding region of the TUBB1 gene. Sanger sequencing was performed for the PCR products, and a biological information analysis was performed.
RESULTS:Among the 289 children with CH and TD, 4 (1.4%) were found to have a c.952C>T(p.R318W) heterozygous mutation in the TUBB1 gene, resulting in the change of tryptophan into arginine at codon 318 of TUBB1 protein. This mutation was evaluated as "potentially pathogenic" based on the classification criteria and guidelines for genetic variation by American College of Medical Genetics and Genomics.
CONCLUSIONS:A novel mutation is detected in the exon of the TUBB1 gene in children with CH and TD in Shandong, suggesting that the TUBB1 gene may be a candidate pathogenic gene for CH children with TD.
