Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

ABSTRACT:

Background/aims

In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI.

Methods

We surveyed 25 affected individuals, 7 of whom participated in tests of insulin dysregulation (24-hour fasting, oral glucose and protein tolerance tests). To identify the disease locus and potential disease-associated mutations we performed linkage analysis, whole transcriptome sequencing, whole genome sequencing, gene capture, and next generation sequencing.

Results

Most affecteds were diagnosed with HI before age one and 40% presented with a seizure. All affecteds responded well to diazoxide. Affecteds failed to adequately suppress insulin secretion following oral glu

SUBMITTER: Pinney SE 

PROVIDER: S-EPMC3876732 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature