[Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(8): 947-952, 2024 Aug 10.
Article
em Zh
| MEDLINE
| ID: mdl-39097277
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fator Nuclear 1 de Tireoide
Limite:
Child, preschool
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Humans
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Male
Idioma:
Zh
Ano de publicação:
2024
Tipo de documento:
Article