{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Boodhansingh KE"],"funding":["NCATS NIH HHS","NIDDK NIH HHS"],"pagination":["301-313"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9339501"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["187(2)"],"pubmed_abstract":["<h4>Objective</h4>Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI.<h4>Design</h4>The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined.<h4>Methods</h4>We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children t"],"journal":["European journal of endocrinology"],"pubmed_title":["Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations."],"pmcid":["PMC9339501"],"funding_grant_id":["R01 DK056268","R01 DK066485","R01 DK057699","R01 DK098517","UL1 TR001878"],"pubmed_authors":["De Leon DD","Lord K","Chen P","Li C","Becker SA","Boodhansingh KE","Stanley CA","Ganguly A","Yang Z","Adzick NS","States LJ","Bhatti T","Shyng SL"],"additional_accession":[]},"is_claimable":false,"name":"Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.","description":"<h4>Objective</h4>Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI.<h4>Design</h4>The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined.<h4>Methods</h4>We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children t","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-05-28T01:56:30.155Z","creation":"2025-04-04T20:28:47.969Z"},"accession":"S-EPMC9339501","cross_references":{"pubmed":["35674212"],"doi":["10.1530/EJE-21-1095","10.1530/eje-21-1095"]}}