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Novel dominant K_ATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

ABSTRACT: Inactivating mutations in the genes encoding the two subunits of the pancreatic beta-cell K_ATP channel, ABCC8 and KCNJ11, are the most common finding in children with congenital hyperinsulinism (HI). Interpreting novel missense variants in these genes is problematic, because they can be either dominant or recessive mutations, benign polymorphisms, or diabetes mutations. This report describes six novel missense variants in ABCC8 and KCNJ11 that were identified in 11 probands with congenital HI. One of the three ABCC8 mutations (p.Ala1458Thr) and all three KCNJ11 mutations were associated with responsiveness to diazoxide. Sixteen family members carried the ABCC8 or KCNJ11 mutations; only two had hypoglycemia detected at birth and four others reported symptoms of hypoglycemia. Phen

SUBMITTER: Boodhansingh KE

PROVIDER: S-EPMC6852436 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Novel dominant K_ATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

OmicsDI is part of the ELIXIR infrastructure

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Dataset Information

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Novel dominant K_ATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.