目的:对n CHD7新发变异所致CHARGE综合征病例进行临床表型及相关基因分析，丰富CHARGE综合征临床表型，探讨其可能的遗传学病因。n 方法:对本院神经内科收治的2例CHARGE综合征患者的临床表型进行分析，对患儿及其父母行家系全外显子组测序(trio whole exome sequencing, trio-WES)检测相关致病基因，并对国内外n CHD7新发变异所致CHARGE综合征病例进行总结。n 结果:患儿1合并小脑蚓部发育不良，四脑室增宽，患儿2合并婴儿痉挛症、先天性髋关节发育不良。基因检测患儿1为n CHD7基因第17外显子c.4015C>T新发杂合无义变异，患儿2的n CHD7基因第22外显子c.5050G>A新发杂合错义变异，根据美国医学遗传学和基因组学学会指南，这两个变异均评级为已报道的致病性变异，关联疾病均为CHARGE综合征。此外，患儿2还检出n COL12A1基因存在c.6161A>C(p.Gln2054Pro)新发杂合错义变异，该位点目前尚未见报道，该变异评级为可能致病，关联疾病为Bethlem肌病2型，与患者的临床表型部分匹配，不能排除患儿2是多基因致病。n 结论:本文2例n CHD7新发变异所致CHARGE综合征病例具有特殊的临床表型，进一步扩展了CHARGE综合征表型谱。n “,”Objective:To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome.Methods:The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents.Results:Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia. Both children were found to harbor n de novo heterozygous variants of the n CHD7 gene, namely c. 4015C>T (exon 17) and c. 5050G>A (exon 22). Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were rated as pathogenic variants, and the related disease was CHARGE syndrome. Furthermore, child 2 was also found to harbor a novel heterozygous c. 6161A>C (p.Gln2054Pro) missense variant ofn COL12A1 gene, which was rated as possibly pathogenic, and the associated disease was Bethlem myopathy type 2, which is partially matched with the patient’s clinical phenotype.n Conclusion:The special clinical phenotypes shown by the two children harboring novel CHD7 variants have further expanded the phenotypic spectrum of CHARGE syndrome.