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Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.

Kara E Boodhansingh1, Katherine Lord1,2, Winnie Sigal1,2

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Genetic testing for congenital hyperinsulinism (HI) should include screening for non-coding variants in the HK1 gene. These variants are found in a significant portion of patients with unexplained HI, impacting clinical care and recurrence risk assessment.

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Non-coding variants in the Hexokinase 1 (HK1) gene have been linked to congenital hyperinsulinism (HI) since 2008.
  • Previous studies reported variable HI phenotypes associated with these non-coding HK1 variants.

Purpose of the Study:

  • To identify additional cases of HI caused by non-coding HK1 variants.
  • To characterize the clinical features of individuals with these variants.

Main Methods:

  • Sequencing of a 350bp region in intron 2 of the HK1 gene.
  • Analysis of 281 individuals with genetics-negative HI.

Main Results:

  • Identified 16 unique non-coding HK1 variants in 18 individuals (6.4%) with genetics-negative HI.
  • Variants were de novo in 50% of cases and inherited in 39%.
  • HI presentation ranged from day 1 to 21 months; 39% were diazoxide-responsive, 61% unresponsive.

Conclusions:

  • Non-coding variants in HK1 intron 2 are associated with a growing number of HI cases.
  • A significant proportion of genetics-negative HI cases may be due to HK1 intron 2 variants.
  • Identification is crucial for clinical management and family recurrence risk assessment.