Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

Autor: Norihiko Matsutani, Hiroto Furuta, Shohei Matsuno, Yoshimasa Oku, Shuhei Morita, Shinsuke Uraki, Asako Doi, Machi Furuta, Hiroshi Iwakura, Hiroyuki Ariyasu, Masahiro Nishi, Takashi Akamizu
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Journal of Diabetes Investigation, Vol 11, Iss 2, Pp 333-336 (2020)
Druh dokumentu: article
ISSN: 2040-1124
2040-1116
DOI: 10.1111/jdi.13138
Popis: Abstract 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.
Databáze: Directory of Open Access Journals
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