摘要目的:分析1例 CFTR基因复合杂合变异导致囊性纤维化患儿遗传学病因。 方法:选取2024年7月西安市儿童医院1例以假性Batter综合征为主要表现的囊性纤维化患儿作为研究对象。采集患儿及其父母EDTA抗凝血5 mL，运用NanoWES捕获探针进行全外显子组高通量测序，采用Sanger一代测序将与患儿表型高度相关的可疑变异位点在父母样本中进行验证，确定突变位点真实性及其来源，并利用Verita Trekker变异位点检测系统和Enliven变异位点注释解读系统进行数据分析。结果:患儿 CFTR基因c.532G>A(p.G178R)和c.1210-11T>G复合杂合变异，其中c.532G>A(p.G178R)变异来自于父亲，c.1210-11T>G变异来自于母亲，根据ACMG评级两位点均被评为致病性变异。 结论:CFTR基因c.532G>A(p.G178R)和c.1210-11T>G复合杂合变异，是导致该患儿出现囊性纤维化的遗传学病因，扩展了 CFTR基因的变异谱。

abstractsObjective:To analyze the genetic etiology of a child with cystic fibrosis caused by compound heterozygous variants of the CFTR gene. Methods:A child presenting with pseudo-Bartter syndrome was selected as the study subject from Xi’an Children’s Hospital in July 2024. Five milliliters of EDTA-anticoagulated blood samples were collected from the child and both parents. High-throughput whole exome sequencing was performed using NanoWES capture probes. Suspected variant sites highly related to the child’s phenotype were verified by Sanger sequencing in parental samples to confirm the mutations and their origins. Data analysis was conducted using the Verita Trekker variant detection system and the Enliven variant annotation and interpretation system.Results:Compound heterozygous variants of the CFTR gene, namely c. 532G>A (p.G178R) and c. 1210-11T>G, were identified in the child. The c. 532G>A (p.G178R) variant was inherited from the father, while the c. 1210-11T>G variant was inherited from the mother. According to the ACMG classification, both variants were classified as pathogenic. Conclusions:The compound heterozygous variants c. 532G>A (p.G178R) and c. 1210-11T>G in the CFTR gene are the genetic causes of cystic fibrosis in this child, which expands the variant spectrum of the CFTR gene.