摘要
目的分析1例精神发育迟滞患儿的临床表型及遗传学特点,明确其致病原因。方法应用二代测序对患儿进行遗传学检测并对变异位点进行生物信息学软件分析。结果全外显子组高通量测序显示患儿携带新发的ARID1B基因c.4035G>C(p.Gln1345His)杂合变异,该变异国内外尚无报道。生物信息学软件分析该位点变异导致蛋白结构不稳定,致病性高。结论ARID1B基因错义变异可能导致患儿精神发育迟滞,变异的检出可以为家系的遗传咨询及产前诊断提供依据。
Objective To explore the genetic basis for a child with mental retardation.Methods The child was subjected to next generation sequencing(NGS).Candidate variant was analyzed with bioinformatic software.Results NGS revealed that the child has carried a de novo heterozygous c.4035G>C(p.Gln1345His)variant of the ARID1B gene.The variant was unreported previously and may cause instability of the protein structure.Conclusion The de novo missense variant of ARID1B gene may underlie the mental retardation in the child.Above result has enabled genetic counseling and prenatal diagnosis for her family.
作者
张婷
吴谦
杨建滨
吴鼎文
沈亚平
杨茹莱
黄新文
Zhang Ting;Wu Qian;Yang Jianbin;Wu Dingwen;Shen Yaping;Yang Rulai;Huang Xinwen(Department of Genetics and Metabolism,Children’s Hospital Affiliated to Zhejiang University School of Medicine,Hangzhou,Zhejiang 310052,China;National Clinical Research Center for Child Health,Hangzhou,Zhejiang 310052,China;Key Laboratory for Biomedical Engineering of the Ministry of Education,Zhejiang University,Hangzhou,Zhejiang 310027,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第10期1154-1157,共4页
Chinese Journal of Medical Genetics
基金
国家重点研发计划(2018YFC1002200,2018YFC1002703)
浙江省医药卫生科技计划(2019RC046)。
