关键词: CHARGE综合征, CHD7基因突变, 临床特征

Abstract: Objective Three neonates diagnosed with CHARGE syndrome were reported，and their clinical characteristics and gene mutation sites were analyzed. In addition，the characteristics of gene mutations and clinical manifestations in Chinese neonates with CHARGE syndrome reported in the literature were summarized.Methods After the clinical diagnosis of CHARGE syndrome，the peripheral blood samples of the proband and their parents were left，and DNA was extracted. The whole exon capture chip was selected for mutation screening. Then the suspected pathogenic mutation sequence was amplified by PCR，and Sanger sequencing was carried out to verify the pathogenic mutation site. Results According to the diagnostic criteria of CHARGE syndrome，two main and two secondary criteria in all 3 cases met the clinical diagnostic criteria of CHARGE syndrome. The gene analysis results showed that there were CHD7 gene mutations in all 3 cases，including 2 cases of heterozygous mutation of the CHD7 gene and 1 case of heterozygosity loss of the CHD7 gene. Two of the mutant sites had not been reported.Conclusion For the clinical diagnosis of CHARGE syndrome in children， the development of gene detection is conducive to the analysis of the possible genetic pathogenesis of the disease.

Key words: CHARGE syndrome, CHD7 gene mutation, clinical features