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Abstract：
Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in infants. NDM occurs due to a single-gene mutation in neonates. A common source for developing NDM in an infant is the existence of mutations/variants in the KCNJ11 and ABCC8 genes, encoding the subunits of the voltage-dependent potassium channel. Both KCNJ11 and ABCC8 genes are useful in diagnosing monogenic diabetes during infancy. Genetic analysis was previously performed using first-generation sequencing techniques, such as DNA-Sanger sequencing, which uses chain-terminating inhibitors. Sanger sequencing has certain limitations; it can screen a limited region of exons in one gene, but it cannot screen large regions of the human genome. In the last decade, first generation sequencing techniques have been replaced with second-generation sequencing techniques, such as next-generation sequencing (NGS), which sequences nucleic-acids more rapidly and economically than Sanger sequencing. NGS applications are involved in whole exome sequencing (WES), whole genome sequencing (WGS), and targeted gene panels. WES characterizes a substantial breakthrough in human genetics. Genetic testing for custom genes allows the screening of the complete gene, including introns and exons. The aim of this review was to confirm if the 22 genetic variations previously documented to cause NDM by Sanger sequencing could be detected using second generation sequencing techniques. The author has cross-checked global studies performed in NDM using NGS, ES/WES, WGS, and targeted gene panels as second-generation sequencing techniques; WES confirmed the similar variants, which have been previously documented with Sanger sequencing. WES is documented as a powerful tool and WGS as the most comprehensive test for verified the documented variants, as well as novel enhancers. This review recommends for the future studies should be performed with second generation sequencing techniques to identify the verified 22 genetic and novel variants by screening in NDM (PNDM or TNMD) children.
摘要：
新生儿糖尿病（NDM）是一种遗传性疾病，异质，和婴儿的罕见疾病。NDM的发生是由于新生儿的单基因突变。婴儿NDM的常见来源是KCNJ11和ABCC8基因中存在突变/变异，编码电压依赖性钾通道的亚基。KCNJ11和ABCC8基因均可用于诊断婴儿期的单基因糖尿病。以前使用第一代测序技术进行遗传分析，比如DNA-Sanger测序,它使用链终止抑制剂。Sanger测序有一定的局限性；它可以在一个基因中筛选有限的外显子区域，但是它不能筛选人类基因组的大部分区域。在过去的十年里，第一代测序技术已被第二代测序技术取代，例如下一代测序（NGS），比Sanger测序更快速，更经济地测序核酸。NGS应用涉及全外显子组测序（WES），全基因组测序（WGS），和靶向基因面板。WES是人类遗传学的重大突破。自定义基因的基因检测可以筛选完整的基因，包括内含子和外显子.本综述的目的是确认是否可以使用第二代测序技术检测到Sanger测序先前记录的导致NDM的22种遗传变异。作者交叉检查了使用NGS在NDM中进行的全球研究，ES/WES,WGS,和靶向基因面板作为第二代测序技术；WES证实了类似的变异，先前已通过Sanger测序记录。WES被记录为一个强大的工具和WGS作为最全面的测试验证记录的变体，以及新颖的增强剂。本综述建议未来的研究应使用第二代测序技术进行，以通过筛查NDM（PNDM或TNMD）儿童来鉴定经过验证的22种遗传和新变异。
