[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
in 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thyroid Nuclear Factor 1
Limits:
Child, preschool
/
Humans
/
Male
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
China
Country of publication:
China