Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism
Authors' conclusion
These results indicate that postzygotic somatic GCK mutations are responsible for some cases of nonfocal diazoxide-unresponsive HI.
Study context
- Population
- Children with diazoxide-unresponsive congenital hyperinsulinism (HI) requiring surgery, histology not focal or localized islet nuclear enlargement (LINE), without detectable mutations by standard testing of peripheral-blood DNA
- Participants
- 10 children
- Outcome
- Somatic mosaic GCK mutations in pancreatic DNA
Methodological detailsnext-generation sequencing of pancreatic specimens
- Next-generation sequencing of pancreatic specimens
Main finding
As reported in the abstract
- Children with low-level mosaic GCK mutations in pancreatic DNA
- 5 of 10
- Unique GCK mutations identified
- 4
- Level of mosaicism
- 4.4% to 10.1%
- GCK mutations not detectable in peripheral-blood DNA by next-generation sequencing (NGS)
- 3 cases tested
- Histology consistent with diffuse HI among mosaic GCK cases
- 4 of 5
- Hypomethylation of IC2 on chromosome 11p in pancreatic and peripheral-blood DNA
- 1 case
Original publication
Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism. J Clin Endocrinol Metab. Published 9 October 2024. doi:10.
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