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首页> 外文期刊>Human mutation >Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

机译：349例耐药儿科癫痫患者诊断靶向重组鉴定了30种不同基因的致病突变

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摘要

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients, epilepsy onset occurred before the age of 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty-nine mutations were identified in 23 additional genes, most of them recently associated with epilepsy. Our data show that panels targeting about 100 genes represent the best cost-effective diagnostic option in pediatric drug-resistant epilepsies. They enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype-genotype correlations. Molecular diagnosis might influence patients' management and translate into better and specific treatment recommendations in some conditions.
机译：靶向ReseRequecing基因面板用于诊断结构，以识别癫痫中的基因缺陷。我们使用30-基因面板和349名抗药性癫痫患者的耐药性癫痫患者进行了针对性重新序列。我们鉴定了71种致病变体，其中42种，其中新的30个基因，相当于20.3％的证据。在66％的突变阳性患者中，癫痫发作发生在6个月之前发生。 95基因面板允许在22例（6.3％）患者中遗传诊断，否则将使用30-基因面板遗漏。在编码钠和钾通道组分的基因中鉴定了约50％的突变。 SCN2A是最常见的基因，然后是SCN1A，KCNQ2，STXBP1，SCN8A，CDK15和MECP2。在23种另外的基因中鉴定了二十九个突变，最近与癫痫相关的大多数。我们的数据表明，靶向约100个基因的面板代表了儿科耐药性癫痫的最佳成本效益的诊断选择。它们能够对非典型表型的分子诊断，允许拓宽表型基因型相关性。分子诊断可能会影响患者的管理，并在某些条件下转化为更好和更具体的治疗建议。

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  • 来源
    《Human mutation》 |2017年第2期|共10页
  • 作者

    Parrini Elena; Marini Carla; Mei Davide; Galuppi Anna; Cellini Elena; Pucatti Daniela; Chiti Laura; Rutigliano Domenico; Bianchini Claudia; Virdo Simona; De Vita Dalila; Bigoni Stefania; Barba Carmen; Mari Francesco; Montomoli Martino; Pisano Tiziana; Rosati Anna; Guerrini Renzo;

  • 作者单位

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Ferrara Univ Hosp UOL Med Genet Ferrara Italy;

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

    Univ Florence A Meyer Childrens Hosp Dept Neurosci Pediat Neurol Neurogenet &

    Neurobiol Unit &

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    epilepsy; next-generation sequencing; gene panel; mutation;

    机译：癫痫;下一代测序;基因面板;突变;

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