whole exome sequencing of one patient with epilepsy and development delay

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。