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. Author manuscript; available in PMC: 2020 Dec 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Aug 14;181(4):682–692. doi: 10.1002/ajmg.c.31737

Figure 2. “Two-hit” mechanism of focal hyperinsulinism.

Figure 2.

(A) The paternally inherited chromosome is depicted in blue and the maternally inherited chromosome in orange. The paternally inherited mutation in the ABCC8 or KCNJ11 gene (red) is present in all cells. The black circle highlights the imprinted 11p15 region normally containing maternally expressed tumor suppressor genes, H19 and CDKN1C, and paternally expressed growth promoting factor IGF2. (B) Somatic loss of the maternal 11p15 region is compensated by paternal uniparental disomy resulting in the focal pancreatic lesion.