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[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China]

Chun-Hui Sun1, Wen-Miao Liu, Miao-Miao Li

  • 1Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong 266100, China. 18660291711@163.com.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|October 24, 2019
PubMed

Insights

A novel TUBB1 gene mutation was identified in children with congenital hypothyroidism and thyroid dysgenesis in Shandong. This finding suggests TUBB1 may be a candidate gene for this condition.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Congenital hypothyroidism (CH) and thyroid dysgenesis (TD) are significant causes of infant morbidity.
  • Genetic factors play a crucial role in the etiology of CH and TD.

Purpose of the Study:

  • To investigate the genetic basis of CH and TD in a Chinese cohort.
  • To identify and characterize mutations in the TUBB1 gene in children with CH and TD.

Main Methods:

  • Whole-genome DNA was extracted from 289 children diagnosed with CH and TD.
  • The entire coding region of the TUBB1 gene was amplified using PCR.
  • Sanger sequencing and bioinformatics analysis were employed to detect mutations.

Main Results:

  • A heterozygous TUBB1 mutation, c.952C>T (p.R318W), was identified in 4 (1.4%) of the studied children.
  • This mutation leads to an amino acid change from tryptophan to arginine at codon 318.
  • The identified mutation was classified as potentially pathogenic according to ACMG guidelines.

Conclusions:

  • A novel mutation in the TUBB1 gene was detected in children with CH and TD.
  • The TUBB1 gene is implicated as a potential pathogenic gene contributing to CH in children with TD.
Abstract

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