{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:47:53Z","timestamp":1773420473967,"version":"3.50.1"},"reference-count":46,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hyperinsulinism of infancy is a genetically heterogeneous disease characterized by dysregulation of insulin secretion resulting in severe hypoglycemia. To date, mutations in five different genes, the sulfonylurea receptor (SUR1, ABCC8), the inward rectifying potassium channel (KIR6.2, KCNJ11), glucokinase (GCK), glutamate dehydrogenase (GLUD1), and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD), have been implicated. Previous reports suggest that, in 40% of patients, no mutation can be identified in any of these genes, suggesting additional locus heterogeneity. However, previous studies did not screen all five genes using direct sequencing, the most sensitive technique available for mutation detection. We selected 15 hyperinsulinism of infancy patients and systematically sequenced the promoter and all coding exons and intron\/exon boundaries of ABCC8 and KCNJ11. If no mutation was identified, the coding sequence and intron\/exon boundaries of GCK, GLUD1, and SCHAD were sequenced. Seven novel mutations were found in the ABCC8 coding region, one mutation was found in the KCNJ11 coding region, and one novel mutation was found in each of the two promoter regions screened. Functional studies on \u03b2-cells from six patients showed abnormal ATP-sensitive K+ channel function in five of the patients; the sixth had normal channel activity, and no mutations were found. Photolabeling studies using a reconstituted system showed that all missense mutations altered intracellular trafficking. Each of the promoter mutations decreased expression of a reporter gene by about 60% in a heterologous expression system. In four patients (27%), no mutations were identified. Thus, further genetic heterogeneity is suggested in this disorder. These patients represent a cohort that can be used for searching for mutations in other candidate genes.<\/jats:p>","DOI":"10.1210\/jc.2004-1233","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T23:47:38Z","timestamp":1102117658000},"page":"6224-6234","source":"Crossref","is-referenced-by-count":66,"title":["Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity"],"prefix":"10.1210","volume":"89","author":[{"given":"Sharona","family":"Tornovsky","sequence":"first","affiliation":[{"name":"Endocrinology and Metabolism Service (S.T., J.L., M.H., Y.N., N.K., E.B.-S., O.S., E.N., T.P., B.G.), Jerusalem 91120, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Crane","sequence":"additional","affiliation":[{"name":"Departments of Medicine and Cellular and Molecular Biology (A.C., L.A.-B.), Baylor College of Medicine, Houston, Texas 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Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Zangen","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, and Department of Pediatrics (D.Z., H.L.), Hadassah-Hebrew University Medical School, Jerusalem 91120, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yardena","family":"Tenenbaum-Rakover","sequence":"additional","affiliation":[{"name":"Pediatric Endocrine Unit (Y.T.-R.), Ha\u2019 Emek Medical Center, Afula 18101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liat","family":"de Vries","sequence":"additional","affiliation":[{"name":"Institute for Endocrinology and Diabetes (L.D.V.), National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, Petah Tikva 49202 and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesu\u0301s","family":"Argente","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario Nin\u0303o Jesu\u0301s (J.A.), E-28009 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Gracia","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario La Paz (R.G.), E-28034 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heddy","family":"Landau","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, and Department of Pediatrics (D.Z., H.L.), Hadassah-Hebrew University Medical School, Jerusalem 91120, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alon","family":"Eliakim","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Clinic (A.E.), Pediatric Department, Meir General Hospital, Kfar-Saba, Sackler School of Medicine, Tel-Aviv 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