一例常染色体显性遗传性智力障碍7型患儿的临床和遗传学分析

Clinical and genetic analysis of a child with mental retardation autosomal dominant 7

目的对1例临床表现为全面发育落后、癫痫、异常面容的患儿进行临床和遗传学分析。方法收集患儿临床资料,抽取患儿及父母外周血,应用高通量捕获测序分析,对可疑致病变异进行Sanger测序验证及生物信息学分析。结果患儿临床表现为全面发育落后、癫痫发作、自闭症、特殊面容,高通量测序结果显示DYRK1A基因第11外显子存在c.1920_c.1927delCCTCTACC(p.Ser641Rfs*31)杂合变异,父母均未携带此变异,为新发突变。结论DYRK1A基因在第11外显子c.1920_c.1927 delCCTCTACC(p.Ser641Rfs*31)变异为该患儿的遗传学病因,丰富了DYRK1A致病基因谱,为临床诊断和遗传咨询提供了依据。

Objective To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia,epilepsy and abnormal face.Method The clinical data of the child were collected.The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing,and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected pathogenic variants.Results The clinical manifestations of the child were overall developmental backwardness,seizures,autism,and special facial appearance.High throughput sequencing showed that there was a heterozygous mutation of exon 11:c.1920_c.1927delCCTCTACC(p.Ser641Rfs*31)of the DYRK1A gene.The same variant was found in neither of her parents,suggesting that it has a denovo origin.Conclusion The exon11:c.1920_c.1927delCCTCTACC(p.Ser641Rfs*31)mutation in DYRK1A gene was the genetic etiology of the case,which enriches the pathogenic gene spectrum of DYRK1A and provides the basis for clinical diagnosis and genetic counseling.