摘要
目的对一例无热性癫痫发作,合并发育落后和孤独症谱系障碍(ASD)的患儿及家系进行遗传学病因诊断和探讨其致病基因特点。方法采集该患儿的临床资料,应用全外显子测序技术检测患儿的致病基因,对可疑的基因变异位点进行Sanger法测序验证,并同时检测患儿双亲的变异情况。结果患儿6岁开始出现无热抽搐,经治疗,1个月后症状明显好转。发作间期为异常的癫痫脑电图:持续性多灶性棘波;经发育评估,合并全面发育迟缓,重度孤独症谱系障碍;测序结果显示患儿KCNQ3基因存在c.689G>A(p.Arg230His)的错义杂合变异,且变异为未见报道的新生变异;根据美国ACMG对遗传变异分类标准和指南,KCNQ3基因c.689G>A变异评级为“可能致病性变异”(PS2+PM2+PM5+PP3)。结论患儿携带的KCNQ3基因的杂合变异,应该是其致病原因,患儿诊断为良性家族性新生儿惊厥(BFNS),同时为该患儿的治疗和遗传咨询提供了临床依据。
Objective To genetic diagnose and pathogenic genes analyse a child with BFNS(Benign familial neonatal seizures,BFNS),Developmental retardation and ASD(autism spectrum disorder,ASD).Methods Collected the clinical data of the child,and detected the pathogenic gene by whole exon sequencing technology,then verified the likely mutation sites by sanger sequencing,as well as the parents.Results Sequencing results showed that the child’s KCNQ3 gene had a heterozygous variant:c.677G>A(p.Arg230His),which was a new variant.Conclusion The variation of KCNQ3 gene may be the pathogenic cause of the child,which provides a clinical basis for the diagnosis,prognosis judgment and genetic counseling of the child.
作者
陈冬婵
潘黎明
林梅芳
CHEN Dongchan;PAN Liming;LIN Meifang(Pediatrics,Huzhou Maternity&Child Health Care Hospital,Huzhou,Zhejiang 313000,China;Child Care Department,Huzhou Maternity&Child Health Care Hospital,Huzhou,Zhejiang 313000,China)
出处
《中国优生与遗传杂志》
2022年第5期811-813,共3页
Chinese Journal of Birth Health & Heredity
基金
湖州市科技局公益性技术应用研究项目(2018GY03)。
