应用长读序列法检测1例坦普尔综合征并分型。

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Sarah Dada, Vahid Akbari, Duha Hejla, Yaoqing Shen, Katherine Dixon, Sanaa Choufani, Rosanna A Weksberg, Cornelius F Boerkoel, Laura Stewart, Kamilla Schlade-Bartusiak, Emma Strong, Danya Fox, Daniel Gamu, William T Gibson, Steven J M Jones
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引用次数: 0

摘要

Temple综合征是一种由14号染色体异常基因组或表观基因组畸变引起的印迹疾病,包括母亲单亲二体(matUPD)、父亲14q32缺失或14q32印迹控制区异常甲基化。了解潜在的分子机制对于了解复发风险和物理效应至关重要。目前,诊断需要通过甲基化敏感检测来检测异常甲基化和拷贝数丢失,如甲基化特异性多重连接依赖探针扩增和短串联重复分析来检测matUPD和上皮化的存在。因此,一种可以检测异常甲基化和潜在遗传机制的一步方法将具有很高的临床价值。在这里,我们使用纳米孔测序来描述坦普尔综合征的分子诊断。在这种情况下,我们展示了纳米孔测序同时检测异常甲基化和潜在遗传机制的应用,从而为分子诊断这种疾病的一步方法提供了概念证明。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32. Understanding the underlying molecular mechanism is essential to understanding the recurrence risk and physical effects. Currently, diagnosis requires the detection of aberrant methylation and copy number loss via methylation-sensitive assays such as methylation-specific multiplex ligation-dependent probe amplification, and short tandem repeat analysis to detect matUPD and the presence of epimutation. Therefore, a one-step approach that can detect aberrant methylation and underlying genetic mechanisms would be of high clinical value. Here we use nanopore sequencing to delineate the molecular diagnosis of a case with Temple syndrome. We demonstrate the application of nanopore sequencing to detect aberrant methylation and underlying genetic mechanisms simultaneously in this case, thus providing a proof of concept for a one-step approach for molecular diagnosis of this disorder.

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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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