PDF(Pubmed)
Abstract：
Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome. In an all-in-one nanopore sequencing analysis DNA hypomethylation of the SNURF:TSS-DMR, known contributing deletions on the maternal allele and point mutations in UBE3A could be ruled out as disease drivers. In contrast, breakpoints and orientation of the tandem duplication could clearly be defined. Segregation analysis in the family showed that the duplication derived de novo in the maternal grandfather. Our study shows the benefits of an all-in-one nanopore sequencing approach for the diagnostics of Angelman syndrome and other imprinting disorders.
摘要：
自适应纳米孔测序作为用于印记障碍和表观特征分析的诊断方法揭示了在具有相对轻度的Angelman样综合征的患者中UBE3A(NM_000462.5)中外显子6和7的基因内复制。在一体化纳米孔测序分析中，SNURF的DNA低甲基化：TSS-DMR，可以排除UBE3A中已知的母体等位基因缺失和点突变作为疾病驱动因素。相比之下,可以清楚地定义串联重复的断点和方向。家庭中的隔离分析表明，重复是在祖父的祖父中从头产生的。我们的研究显示了一体化纳米孔测序方法用于诊断Angelman综合征和其他印记障碍的益处。
