Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing
© 2019 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:11 |
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| Enthalten in: |
Journal of diabetes investigation - 11(2020), 2 vom: 17. März, Seite 333-336 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Matsutani, Norihiko [VerfasserIn] |
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| Links: |
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| Themen: |
ABCC8 gene |
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| Anmerkungen: |
Date Completed 23.11.2020 Date Revised 28.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1111/jdi.13138 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM300887507 |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2019 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a ABCC8 gene | |
| 650 | 4 | |a Diabetes | |
| 650 | 4 | |a Hyperinsulinemic hypoglycemia in infancy | |
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| 650 | 7 | |a Sulfonylurea Receptors |2 NLM | |
| 700 | 1 | |a Furuta, Hiroto |e verfasserin |4 aut | |
| 700 | 1 | |a Matsuno, Shohei |e verfasserin |4 aut | |
| 700 | 1 | |a Oku, Yoshimasa |e verfasserin |4 aut | |
| 700 | 1 | |a Morita, Shuhei |e verfasserin |4 aut | |
| 700 | 1 | |a Uraki, Shinsuke |e verfasserin |4 aut | |
| 700 | 1 | |a Doi, Asako |e verfasserin |4 aut | |
| 700 | 1 | |a Furuta, Machi |e verfasserin |4 aut | |
| 700 | 1 | |a Iwakura, Hiroshi |e verfasserin |4 aut | |
| 700 | 1 | |a Ariyasu, Hiroyuki |e verfasserin |4 aut | |
| 700 | 1 | |a Nishi, Masahiro |e verfasserin |4 aut | |
| 700 | 1 | |a Akamizu, Takashi |e verfasserin |4 aut | |
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