The exhaustive analysis for congenital hypothyroidism using the next generation sequencer

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We detected many novel mutations of the thyroid hormone generating genes including dual oxidase 2 (DUOX2), PAX8 and Pendrin (PDS) and so on by the exhaustive analysis of causative genes of congenital hypothyroidism using the next generation sequencer. Furthermore, We performed family analysis and We considered whether the variation that we discovered was the etiology to congenital hypothyroidism and elucidated the hereditary genetic causes.We identified nine new mutations about DUOX2 and got knowledge to contribution of DUOX2 mutations to elucidate genetic pahtology. In many patients with congenital hypothyroidism, the causative gene could not been detected. But this study showed that DUOX2 defect is one of the main causes of congenital hypothyroidism. In addition, about other genes, we could identify new mutations and obtained the data which contributed to elucidation of genetic causes.