The advent of next generation sequencing (NGS, which consists of massively parallel sequencing to perform TGS (total genome sequencing) or WES (whole exome sequencing)) has abundantly discovered many causative mutations in patients with pediatric neurological disease. A surprisingly high number of these are de novo mutations which have not been inherited from either parent. For epilepsy, autism spectrum disorders, and neuromotor disorders, including cerebral palsy, initial estimates put the frequency of causative de novo mutations at about 15% and about 10% of these are somatic. There are some shared mutated genes between these three classes of disease. Studies of copy number variation by comparative genomic hybridization (CGH) proceded the NGS approaches but they also detect de novo variation which is especially important for ASDs. There are interesting differences between the mutated genes detected by CGS and NGS. In summary, de novo mutations cause a very significant proportion of pediatric neurological disease.

中文翻译：

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从头突变对小儿神经系统疾病的重要性-并非在子宫或分娩创伤中都如此。

下一代测序技术（NGS，由大规模并行测序组成，以进行TGS（全基因组测序）或WES（全外显子组测序）组成的问世，已经在小儿神经病患者中发现了许多致病突变。这些突变体中令人惊讶地高的数量是从未从任何一个亲本遗传而来的从头突变。对于癫痫病，自闭症谱系障碍和神经运动障碍（包括脑瘫），初步估计原因致死突变的频率约为15％，其中约10％是体细胞的。这三类疾病之间存在一些共有的突变基因。通过比较基因组杂交（CGH）进行的拷贝数变异研究使NGS方法得以进行，但它们也可以检测从头变异，这对于ASD尤其重要。CGS和NGS检测到的突变基因之间存在有趣的差异。总之，从头突变引起小儿神经系统疾病的比例非常高。