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Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.

Se Flanagan¹, A Damhuis, I Banerjee

¹Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.

Pediatric Diabetes

|October 8, 2011

Summary

Genetic testing for diazoxide-unresponsive hyperinsulinaemic hypoglycaemia (HH) is crucial. Heterozygous ABCC8 gene deletions are a rare cause of HH, guiding treatment and recurrence risk assessment.

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Area of Science:

Genetics
Endocrinology
Molecular Biology

Background:

Inactivating mutations in pancreatic beta cell ATP-sensitive potassium (KATP) channel genes cause diazoxide-unresponsive hyperinsulinaemic hypoglycaemia (HH) in most patients.
Genetic testing is vital for determining the mode of inheritance, distinguishing between focal and diffuse disease subtypes.

Observation:

Sequencing failed to diagnose 20% of HH patients.
This study investigated ABCC8 and KCNJ11 gene dosage in 29 undiagnosed HH probands.
Heterozygous partial ABCC8 deletions were identified in four probands.

Findings:

Paternally inherited ABCC8 deletions were found in two patients with focal pancreatic disease.
Two patients with diffuse disease were compound heterozygotes for a deletion and a known mutation.
Family studies confirmed inheritance patterns in affected siblings.

Implications:

Heterozygous ABCC8 deletions are a rare but significant cause of diazoxide-unresponsive HH.
Gene dosage analysis is recommended when sequencing is inconclusive.
Accurate genetic diagnosis guides clinical management and informs recurrence risk.