一例Bainbridge-Ropers综合征患儿的基因变异分析  

Analysis of ASXL3 gene variant in a child with Bainbridge-Ropers syndrome

作　　者：段富华 翟仪稳 孔祥东[1] Duan Fuhua;Zhai Yiwen;Kong Xiangdong(Center of Genetics and Prenatal Diagnosis,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院,妇产科遗传与产前诊断中心,450052

出　　处：《中华医学遗传学杂志》2021年第3期275-277,共3页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002203)。

摘　　要：目的分析1例Bainbridge-Ropers综合征患儿及其父母ASXL3基因的变异类型,明确其可能的遗传学病因,为其临床诊断和遗传咨询提供依据。方法采集患儿和父母的外周血样,应用全外显子测序的方法对患儿基因进行检测,并采用Sanger测序的方法对变异位点进行验证。结果全外显子测序结果显示,患儿的ASXL3基因c.3106C>T杂合变异(p.Arg1036*),父母外周血ASXL3基因该位点未检测到c.3106C>T变异。该变异为无义变异,会产生截短蛋白。根据美国医学遗传学与基因组学学会变异分类标准与指南,c.3106C>T变异为致病性变异(PVS1+PS2+PP4)。结论ASXL3基因c.3106C>T杂合变异可能为患儿的致病原因,通过ASXL3基因变异分析,可以为其临床诊断和遗传咨询提供依据。Objective To explore the genetic basis for a child affected with Bainbridge-Ropers syndrome.Methods Genomic DNA was extracted from peripheral venous blood samples from the patient and his parents.Whole exome sequencing(WES)was carried out to detect genetic variant of the proband.Candidate variant was verified by Sanger sequencing.Results The 3-year-old boy presented with psychomotor retardation,linguistic difficulties,mental retardation and peculiar craniofacial phenotype.A de novo heterozygous nonsense variant of the ASXL3 gene,c.3106C>T,was identified by WES in the proband,and the same mutation was not found among his parents.Based no the American College of Medical Genetics and Genomics standards and guidelines,the c.3106C>T variant was predicted to be pathogenic(PVS1+PS2+PP4).Conclusion The heterozygous variant c.3106C>T of the ASXL3 gene probably underlies the Bainbridge-Ropers syndrome in the patient.Above result has enabled the clinical diagnosis and genetic counseling for the family.

关 键 词：Bainbridge-Ropers综合征 ASXL3基因 精神运动发育落后 

分 类 号：R726.9[医药卫生—儿科] R440[医药卫生—临床医学]