Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial ...Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal autopsy was performed in a stillborn baby of 32 weeks of gestation having syndactyly, polydactyly and short forearms to know the cause of death and the diagnosis emerged as EVC syndrome. It is important to diagnose EVC syndrome as it is transmitted as an autosomal recessive disorder, so genetic counseling is required to make parents aware of the risk of recurrence.展开更多
目的:,联合多种测序技术分析1例埃利伟综合征(Ellis-van Creveld syndrome,EVC综合征)胎儿基因变异,为遗传咨询提供依据。方法:孕24周时超声检查提示胎儿双手轴后六指、四肢长骨短、心脏畸形和主动脉弓缩窄等。采集胎儿羊水及父母抗凝全...目的:,联合多种测序技术分析1例埃利伟综合征(Ellis-van Creveld syndrome,EVC综合征)胎儿基因变异,为遗传咨询提供依据。方法:孕24周时超声检查提示胎儿双手轴后六指、四肢长骨短、心脏畸形和主动脉弓缩窄等。采集胎儿羊水及父母抗凝全血,提取基因组DNA,通过高通量测序平台进行Trio全外显子组测序(Trio-whole exome sequencing,Trio-WES)及低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq),利用Sanger测序及实时定量聚合酶链反应对疑似致病变异进行验证。结果:Trio-WES测序结果显示胎儿EVC2基因发生复合杂合变异:c.682G>C(p.A228P)纯合变异和loss1(Exon:2-22)all杂合缺失,经验证两个变异分别来源于其父母。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判定:c.682G>C(p.A228P)和loss1(Exon:2-22)all均为可能致病性变异,评分依据分别为PM1+PM2_Supporting+PM3+PP4和PVS1+PM2_Supporting。该胎儿确诊为EVC综合征,经遗传咨询后孕妇选择终止妊娠。结论:EVC2基因的c.682G>C(p.A228P)和loss1(Exon:2-22)all复合杂合变异可能是该EVC综合征胎儿的致病原因,上述两种变异均为新发变异,扩充了EVC2基因的突变谱,同时为该病的产前遗传咨询提供了理论依据。展开更多
文摘Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal autopsy was performed in a stillborn baby of 32 weeks of gestation having syndactyly, polydactyly and short forearms to know the cause of death and the diagnosis emerged as EVC syndrome. It is important to diagnose EVC syndrome as it is transmitted as an autosomal recessive disorder, so genetic counseling is required to make parents aware of the risk of recurrence.
文摘目的:,联合多种测序技术分析1例埃利伟综合征(Ellis-van Creveld syndrome,EVC综合征)胎儿基因变异,为遗传咨询提供依据。方法:孕24周时超声检查提示胎儿双手轴后六指、四肢长骨短、心脏畸形和主动脉弓缩窄等。采集胎儿羊水及父母抗凝全血,提取基因组DNA,通过高通量测序平台进行Trio全外显子组测序(Trio-whole exome sequencing,Trio-WES)及低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq),利用Sanger测序及实时定量聚合酶链反应对疑似致病变异进行验证。结果:Trio-WES测序结果显示胎儿EVC2基因发生复合杂合变异:c.682G>C(p.A228P)纯合变异和loss1(Exon:2-22)all杂合缺失,经验证两个变异分别来源于其父母。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判定:c.682G>C(p.A228P)和loss1(Exon:2-22)all均为可能致病性变异,评分依据分别为PM1+PM2_Supporting+PM3+PP4和PVS1+PM2_Supporting。该胎儿确诊为EVC综合征,经遗传咨询后孕妇选择终止妊娠。结论:EVC2基因的c.682G>C(p.A228P)和loss1(Exon:2-22)all复合杂合变异可能是该EVC综合征胎儿的致病原因,上述两种变异均为新发变异,扩充了EVC2基因的突变谱,同时为该病的产前遗传咨询提供了理论依据。
