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目的:确定1例全面发育迟缓患儿的遗传学病因。方法:提取患儿及其父母的外周血DNA样本，应用全外显子基因检测技术对患儿进行全外显子组检测，对可疑变异位点进行患儿及其父母的Sanger测序验证。结果:基因检测提示患儿n GNB1基因存在杂合变异c.239T>C(p.Ile80Thr)，父母均未携带该变异，为新发变异。n 结论:GNB1基因的显性杂合变异可能是本例患儿的致病原因。n “,”Objective:To explore the genetic basis for a child featuring global developmental delay.Methods:DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.Results:A heterozygous c. 239T>C(p.Ile80Thr) variant of then GNB1 gene was detected in the proband, which was a verified to be n de novo in origin.n Conclusion:The heterozygous c. 239T>C (p.Ile80Thr) variant of then GNB1 gene probably underlay the disease in this child.n