Hyperinsulinism

Gene: UCP2

I don't know

PMID: 28681398
Analysis of large scale sequencing cohort data does not support the role of variants in UCP2 as a monogenic cause of HH

PMID: 27967291
5 unrelated children with diazoxide-responsive congenital hyperinsulinism and heterozygous UCP2 mutations (out of cohort of 211). Among the 5 cases, 4 unique mutations (3 missense and 1 splicing) were identified. In vitro functional assays showed 30% to 75% decrease in UCP2 activity. 4 relatives with a UCP2 variant had unusual glucose and insulin responses to oral glucose, none of the family members had received a clinical diagnosis of HH prior to the study.

PMID: 23275527
2 unrelated children with heterozygous UCP2 mutations

PMID: 19065272
2 unrelated children reported with with heterozygous UCP2 mutations (inherited from parent). UCP2 knockout mice exhibit an hyperinsulinemic hypoglycemia, suggesting an involvement of UCP2 in insulin secretion. Functional assays in yeast and in insulin-secreting cells revealed an impaired activity of UCP2 mutants.

Created: 14 May 2024, 4:34 a.m. | Last Modified: 14 May 2024, 4:34 a.m.

Panel Version: 1.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital hyperinsulinism

Publications

• PMID: 27967291, 23275527, 19065272, 28681398

I don't know

Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model).

Created: 14 Feb 2020, 4:20 a.m. | Last Modified: 14 Feb 2020, 4:20 a.m.

Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism

Publications

• 19065272