Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.
10.6065/apem.2017.22.2.90
- Author:
Maki FUKAMI
1
;
Mami MIYADO
Author Information
1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan. fukami-m@ncchd.go.jp
- Publication Type:Review
- Keywords:
Next-generation sequencer;
Mutation;
Comparative genomic hybridization;
DNA Copy-number variations;
Diagnosis
- MeSH:
Comparative Genomic Hybridization*;
Cytogenetic Analysis;
Diagnosis*;
Exome;
Exons;
Mass Screening
- From:Annals of Pediatric Endocrinology & Metabolism
2017;22(2):90-94
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
