新发杂合Asn700del变异导致的下肢明显型脊肌萎缩症家系分析  

Pedigree Analysis of Spinal Muscular Atrophy Lower Extremity Predominant Caused by De Novo Heterozygote Asn700del Variation

作　　者：狄华[1] 穆艳超 李杨 严凯 李慧娟 DI Hua;MU Yan-chao;LI Yang;YAN Kai;LI Hui-juan(Prenatal Diagnosis Center,Anyang Maternal and Child Health Care Hospital,Anyang Key Laboratory of Prenatal Diagnosis,Anyang 455000,Henan Province,China;Department of Ultrasound,Anyang Maternal and Child Health Care Hospital,Anyang 455000,Henan Province,China)

机构地区：[1]安阳市妇幼保健院产前诊断中心安阳市产前诊断重点实验室,河南安阳455000 [2]安阳市妇幼保健院超声科,河南安阳455000

出　　处：《罕少疾病杂志》2025年第4期1-3,共3页Journal of Rare and Uncommon Diseases

基　　金：安阳市重点研发与推广专项:CNV-seq技术在围产期保健中的应用(2023C01SF006);安阳市产前诊断重点实验室(2023E02JC003)。

摘　　要：目的对一个超声诊断多发性关节挛缩症可能家系进行基因分析和调查。方法采集流产组织与胎儿父母血液标本,进行高通量测序,采用Sanger测序对变异进行验证。使用多个数据库对检测结果进行分析。结果流产胎儿组织存在BICD2 c.2100_2102delCAA(p.Asn700del)杂合缺失变异,流产胎儿父母BICD2基因均为野生型;流产胎儿和胎父母样本均未检测到100kb以上已知明确致病的拷贝数变异。结论胎儿所具有的BICD2 c.2100_2102delCAA(p.Asn700del)杂合整码缺失变异为新发变异,是造成下肢发育不良的原因。新发基因变异的检出丰富了遗传性下肢明显型脊肌萎缩症的致病机制。Objective To analyze and investigate the gene of a pedigree with multiple arthrogryposis diagnosed by ultrasound.Methods Abortion tissue and fetal parents'blood samples were collected for high-throughput sequencing,and Sanger sequencing was used to verify the variation.The test results were analyzed using multiple databases.Results There was BICD2 c.2100_2102delCAA(p.Asn700del)heterozygosity deletion in the aborted fetal tissue,and the BICD2 gene of the aborted fetal parents was wild type.Copy number variants above 100kb that are known to be clearly pathogenic were not detected in aborted fetuses or parental samples.Conclusion The deletion mutation of BICD2 c.2100_2102delCAA(p.Asn700del)in fetus is a new mutation,which is the cause of lower limb dysplasia.The detection of novel gene variants has enriched the pathogenesis of spinal muscular atrophy lower extremity predominant.

关 键 词：BICD2 下肢明显型脊肌萎缩症 畸形 家系 

分 类 号：R394.3[医药卫生—医学遗传学]