Article
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Clinical genetics - 1 May 2015
Saint-Martin C, Zhou Q, Martin G M, Vaury C, Leroy G, Arnoux J-B, de Lonlay P, Shyng S-L, Bellanné-Chantelot C
Abstract excerpt
ABCC8 encodes a subunit of the β-cell potassium channel (KATP ) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two recessive mutations of ABCC8 typically have severe diffuse forms of CHI unresponsive to diazoxide. Some dominant ABCC8 mutations are responsible for a subset of diffuse diazoxide-unresponsive forms of CHI. We report the analysis of 21 different ABCC8...
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