Non-coding variants in HK1 gene affect hyperinsulinism outcomes, suggesting potential clinical implications for families.
Non-coding variants in intron 2 of the HK1 gene have now been associated with HI in a growing number of cases. Our findings suggest that a significant proportion of individuals with negative genetics in genes currently known to be associated with HI may harbor HK1 intron 2 variants. Identifying these cases is important for clinical care as well as for assessing recurrence risk for families.
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Boodhansingh et al. (2026) studied this question.
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