whole exome sequencing of one patient with epilepsy and development delay
收藏doi.org2025-03-23 收录
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http://doi.org/10.17632/5d2rrg2rs6.1
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clinical testing for patients with epilepsy and development delay. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs) . SNP mutation analysis based WES data revealed the maternal uniparental disomy (1q32.1) unmasked the homozygous variant of CNTN2.
针对癫痫及发育迟缓患者的临床测试。通过三联全外显子测序揭示了CNTN2基因（c.2873_c.2874delCT, p.Thr958Thrfs）中的一种新型同义移码变异。基于全外显子测序数据的SNP突变分析揭示了母源单亲二倍体（1q32.1）掩盖了CNTN2基因的同义变异。
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