Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome
10.3760/cma.j.cn511374-20231220-00343
- VernacularTitle:脑-肺-甲状腺综合征1例患儿的临床及 NKX2-1基因变异分析
- Author:
Rui DONG
1
;
Yulin LIU
;
Bingyi SHI
;
Yan HUANG
;
Yuqiang LYU
;
Yi LIU
Author Information
1. 山东大学附属儿童医院(济南市儿童医院)儿科研究所，济南 250022
- Keywords:
Brain-lung-thyroid syndrome;
Dyskinesia;
Hypothyroidism;
Budesonide aerosol;
NKX2-1 gene
- From:
Chinese Journal of Medical Genetics
2024;41(8):947-952
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To carry out clinical and genetic analysis for a child featuring Brain-Lung-Thyroid syndrome (BLTS).Methods:A child who had presented at the Children′s Hospital Affiliated to Shandong University on May 27, 2022 was selected as the study subject. Clinical data was collected. Trio-whole exome sequencing (Trio-WES) was carried out for the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The child was given individualized treatment following the diagnosis.Results:The child, a two-year-and-seven-month-old boy, had presented with global developmental delay, ataxia and hypothyroidism. WES revealed that he has harbored a heterozygous c. 674C>T variant of the NKX2-1 gene, based on which he was diagnosed with BLTS. CT scan revealed interstitial and parenchymal inflammation in his lungs, which was reduced by budesonide aerosol inhalation. Conclusion:Discovery of the novel c. 674C>T variant has enriched the mutational spectrum of the NKX2-1 gene. Budesonide aerosol may be used to treat lung inflammation associated with BLTS.
