Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing
| العنوان: | Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing |
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| المؤلفون: | Shinsuke Uraki, Asako Doi, Hiroto Furuta, Machi Furuta, Yoshimasa Oku, Hiroshi Iwakura, Shuhei Morita, Norihiko Matsutani, Hiroyuki Ariyasu, Masahiro Nishi, Shohei Matsuno, Takashi Akamizu |
| المصدر: | Journal of Diabetes Investigation, Vol 11, Iss 2, Pp 333-336 (2020) Journal of Diabetes Investigation |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Adolescent, Endocrinology, Diabetes and Metabolism, Short Report, 030209 endocrinology & metabolism, Hypoglycemia, medicine.disease_cause, Compound heterozygosity, Sulfonylurea Receptors, Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Exome Sequencing, Internal Medicine, medicine, Diabetes Mellitus, Humans, Age of Onset, Hyperinsulinemic hypoglycemia, Gene, Exome sequencing, Genetics, Mutation, business.industry, Diabetes, General Medicine, Articles, Hyperinsulinemic hypoglycemia in infancy, medicine.disease, RC648-665, Pedigree, 030104 developmental biology, Clinical Science and Care, Etiology, Congenital Hyperinsulinism, business, ABCC8 gene |
| الوصف: | Activating mutations in the ABCC8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy. Patients with hypoglycemia in infancy due to a heterozygous inactivating mutation have been reported to occasionally progress to diabetes later in life. We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes at 15 and 18 years‐of‐age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys). Although their father and mother were heterozygous carriers of the p.Arg168Cys and the p.Arg1421Cys mutation, respectively, neither parent had diabetes. These mutations have been reported to be responsible for hypoglycemia in infancy and function as an inactivating mutation. Our results suggest that the inactivating ABCC8 gene mutation is also important in the etiology of diabetes. Pedigree of a family with young‐onset diabetes due to a compound heterozygous inactivating ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys). These mutations had been reported to be responsible for hypoglycemia in infancy and be functional inactivating mutations. |
| اللغة: | English |
| تدمد: | 2040-1116 2040-1124 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008c67ebc5c82a3fc7917041f25c8da6 https://doaj.org/article/3e3eba8965fe4496bf9a7384912774ef |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....008c67ebc5c82a3fc7917041f25c8da6 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20401116 20401124 |
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