摘要目的:分析1例Alazami综合征(AS)患儿的临床表型及遗传学病因。方法:以2021年6月15日就诊于天津市儿童医院的1例患儿作为研究对象。对其进行全外显子组测序(WES)分析，并对候选变异进行Sanger测序家系验证。结果:WES检测提示患儿携带 LARP7基因存在c.429_430delAG(p.Arg143Serfs*17)及c.1056_1057delCT(p.Leu353Glufs*7)移码变异，经Sanger测序验证分别遗传自其父母。 结论:LARP7基因c.429_430delAG及c.1056_1057delCT变异可能为该患儿的致病原因。

abstractsObjective:To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS).Methods:A child who presented at Tianjin Children′s Hospital on June 15, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing.Results:WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c. 429_430delAG (p.Arg143Serfs*17) and c. 1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother. Conclusion:The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.