关键词: 　CHARGE综合征；　CHD7基因；　临床特点；　外显子剪接增强子

Abstract: Objective　To explore the clinical characteristics and diagnosis of CHARGE syndrome. Methods　The clinical data of CHARGE syndrome due to CHD7 gene mutation in two children were analyzed retrospectively. The databases of PubMed, HGMD, CNKI, and WanFang were searched from January 1998 to June 2018 with the key words of "CHARGE syndrome and CHD7 gene" and the literatures were reviewed. Results　Two boys were over 4 months old and 8 years and 2 months old respectively. Both of them showed slow growth and development retardation, with hearing impairment and patent ductus arteriosus. In addition case 1 had visual impairment and case 2 had occult testis. Genetic analysis showed that the case 1 carried a heterozygous nonsense mutation of c.5883C>T (p.Arg1945*) in the 29th exon of CHD7 gene, and case 2 carried a heterozygous mutation of c.2966G>A (p.C989Y) in the 12nd exon of CHD7 gene. In case 1, CHD7 mutation led to the truncation of the encoded CHD7 protein, which caused the disease. In case 2, the CHD7 mutation may not only cause missense mutation itself, but may also cause the disappearance of the ESE (TGCATT) site bound by SRp55 protein, affecting the accuracy of pre-mRNA splicing, and thereby affecting the function of CHD7 protein. A total of 107 articles on CHD7 gene causing CHARGE syndrome were retrieved and covered 1021 patients. There were 817 mutations data of CHD7 gene collected in HGMD. Conclusions　The symptoms of CHARGE syndrome are diverse and involve multiple systems. The CHD7 gene detection is helpful for the diagnosis of CHARGE syndrome.

Key words: 　CHARGE syndrome;　CHD7 gene;　clinical feature;　exon splicing enhancer