目的针对产前诊断基因组拷贝数变异检测(copy number variation sequencing,CNV-seq)中,意外发现胎儿DMD基因拷贝数异常患者进行后续分析验证与咨询。方法因高龄(≥35岁)行产前羊膜腔/绒毛膜穿刺取材后CNV-seq检测意外检出携带DMD基因...目的针对产前诊断基因组拷贝数变异检测(copy number variation sequencing,CNV-seq)中,意外发现胎儿DMD基因拷贝数异常患者进行后续分析验证与咨询。方法因高龄(≥35岁)行产前羊膜腔/绒毛膜穿刺取材后CNV-seq检测意外检出携带DMD基因变异的5例病例,并通过多重连接探针扩增技术(multiplex ligationdependent probe amplification,MLPA)对5例胎儿携带的DMD基因变异进行验证和遗传溯源后,对该变异所致疾病的严重程度进行遗传学评估。结果5例孕妇及其亲属在随访时均否认DMD家族史。经MLPA验证4例胎儿携带DMD缺失变异,其中3例变异来源于胎儿外祖父,1例来源于胎儿父亲。其中携带变异的男性均无明显的临床症状或年轻时偶有肌肉无力的症状。结论遗传变异溯源、完善家系成员表型评估、基因结构与功能的解析和疾病严重程度评估,对于产前诊断意外发现DMD基因或其他X连锁遗传病致病基因变异的遗传咨询尤为重要。展开更多
Dear Editor,Descemet’s membrane detachment(DMD)is considered as a potential sight-threatening complication following various intraocular surgeries,particularly cataract surgery[1].The labile adhesion between the Desc...Dear Editor,Descemet’s membrane detachment(DMD)is considered as a potential sight-threatening complication following various intraocular surgeries,particularly cataract surgery[1].The labile adhesion between the Descemet’s membrane(DM)and the posterior corneal stromal layer can be easily separated with minimal mechanical force.Several risk factors have been associated with the development of DMD including old age,improper intraoperative operation,corneal ectatic disorders,and endothelial disorders and so on[1-4].展开更多
基金Supported by the Natural Science Foundation of Fujian Province(No.2024J011318No.2024J011321)Fuzhou Science and Technology Program(No.2023-S-005).
文摘Dear Editor,Descemet’s membrane detachment(DMD)is considered as a potential sight-threatening complication following various intraocular surgeries,particularly cataract surgery[1].The labile adhesion between the Descemet’s membrane(DM)and the posterior corneal stromal layer can be easily separated with minimal mechanical force.Several risk factors have been associated with the development of DMD including old age,improper intraoperative operation,corneal ectatic disorders,and endothelial disorders and so on[1-4].
