CHARGE综合征两例及基因突变研究  

Clinical data and mutation analysis of two cases of CHARGE syndrome

作　　者：周洁 高彬 周英旎 傅月玥 孙飞 邢影 明洁 姬秋和 Zhou Jie;Gao Bin;Zhou Yingni;Fu Yueyue;Sun Fei;Xing Ying;Ming Jie;Ji Qiuhe(Department of Endocrinology, The First Affiliated Hospital of Air Force Medical University, Xi′an 710032, China)

机构地区：[1]西安空军军医大学第一附属医院内分泌科,710032

出　　处：《中华内分泌代谢杂志》2019年第5期398-403,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的报道2例临床诊断为CHARGE综合征的病例,分析其可能的遗传学原因,并总结既往文献报道的中国患者临床表现和基因突变特点。方法在临床诊断的基础上提取先证者及其亲属的外周血DNA,采用PCR扩增对该家系进行突变检测,捕获目标基因后进行IlluminaHiSeq2500高通量测序并针对检出的致病性变异位点进行Sanger测序验证。结果研究发现先证者1的CHD7基因第10号内含子发生杂合突变。其父母和弟弟无突变。先证者2的CHD7基因第7号外显子区域重复。其父携带同样突变,其母没有突变。结论对于类似临床表现病例,建议依据临床症状做出诊断的同时开展基因突变检测,有利于研究可能的遗传致病机制,提高临床医生对该病的认识。Objective To analyze the clinical manifestations and possible gene mutation sites of Chinese patients in order to improve the clinician′s understanding of CHARGE syndrome. Methods Clinical data were collected and blood samples were obtained from the proband of CHARGE syndrome and their relatives. The peripheral blood DNA was extracted and sequenced by PCR amplification. Mutation sites were verified by Sanger sequencing. Results For the first proband, a heterozygous mutation was detected in the intron 10 of CHD7 gene. His parents and brother did not have mutation. For the second proband, total repeat sequence in exon 7 of CHD7 gene was detected. His father carried the same mutation and his mother did not have mutation. Conclusion For the patients who are diagnosed with CHARGE syndrome based on the clinical manifestations, genetic mutation detection should be proceeded. It is useful for studying possible genetic pathogenesis and enhancing the awareness of clinicians.

关 键 词：CHARGE综合征 CHD7突变 常染色体显性遗传疾病 

分 类 号：R725.9[医药卫生—儿科]