摘要目的:分析1例脑-肺-甲状腺综合征患儿的遗传学病因。方法:以2022年5月27日就诊于山东大学附属儿童医院的1例患儿作为研究对象。采集患儿的临床信息，对患儿及其父母进行家系全外显子组测序，用Sanger测序对候选变异进行验证，在确诊后对患儿进行个体化治疗。结果:患儿为2岁7月龄男性，表现为全面发育落后、共济失调、甲状腺功能减退。基因测序显示其携带 NKX2-1基因c.674C>T新发杂合变异。患儿被确诊为脑-肺-甲状腺综合征。胸部CT检查提示肺间实质病变，经布地奈德雾化吸入后有所减轻。 结论:新发现的c.674C>T变异扩大了 NKX2-1基因的变异谱。布地奈德气雾剂可用于治疗脑-肺-甲状腺综合征相关的肺部炎症。

abstractsObjective: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.