Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

Kara E BoodhansinghZhongying YangChanghong LiPan ChenKatherine LordSusan A BeckerLisa J StatesN Scott AdzickTricia BhattiShow-Ling ShyngArupa GangulyCharles A StanleyDiva D De León

Published in: European journal of endocrinology (2022)

These results indicate that post-zygotic low-level mosaic mutations of known HI genes are responsible for some cases of LINE-HI that lack an identifiable germ-line mutation and that partial pancreatectomy may be curative for these cases.

Keyphrases

genome wide
gene expression
prognostic factors
transcription factor
bioinformatics analysis