Publications by authors named "Norihiko Matsutani"
Article Synopsis
- Activating mutations in the ABCC8 gene lead to diabetes, while inactivating mutations typically cause hyperinsulinemic hypoglycemia in infants; however, some infants may later develop diabetes.
- A study investigated two brothers diagnosed with diabetes at ages 15 and 18, revealing they carried specific compound heterozygous mutations in the ABCC8 gene.
- Interestingly, their parents were carriers of the same mutations but did not have diabetes, suggesting that inactivating mutations of ABCC8 could play a role in developing diabetes later in life.
Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2 months-of-age due to the heterozygous ABCC8 gene mutation (p.Pro1198Leu).
View Article and Find Full Text PDFWhole-exome sequencing is a new technology. We used it to explore the gene responsible for early-onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.
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