Fukami Maki, Miyado Mami
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):90-94. doi: 10.6065/apem.2017.22.2.90. Epub 2017 Jun 28.
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders. Array CGH is currently used as the standard procedure for molecular cytogenetic analysis. Array CGH can detect various submicroscopic genomic rearrangements involving exons or enhancers of disease-associated genes. This review introduces some examples of the use of NGS and array CGH for the molecular diagnosis of pediatric endocrine disorders.
新一代测序（NGS）和基于芯片的比较基因组杂交（芯片CGH）分别使我们能够进行高通量突变筛查和全基因组拷贝数分析。这些方法可用于儿科内分泌疾病的分子诊断。NGS已确定了几种疾病相关基因中突变的频率和表型变异。此外，使用NGS的全外显子组分析已成功鉴定出几种内分泌疾病的新致病基因。芯片CGH目前用作分子细胞遗传学分析的标准程序。芯片CGH可以检测涉及疾病相关基因外显子或增强子的各种亚微观基因组重排。本文综述介绍了一些使用NGS和芯片CGH进行儿科内分泌疾病分子诊断的实例。
