[Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):836-839. doi: 10.3760/cma.j.issn.1003-9406.2018.06.014.
[Article in 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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Congenital Hypothyroidism / diagnosis*
  • Congenital Hypothyroidism / genetics*
  • Dual Oxidases / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mutation, Missense

Substances

  • Dual Oxidases
  • DUOX2 protein, human