{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T15:05:18Z","timestamp":1774883118975,"version":"3.50.1"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Congenital hyperinsulinism (CHI) is characterized by persistent hypoglycemia due to the inappropriate insulin secretion. Inactivating mutations in the <jats:italic>ABCC8<\/jats:italic> and <jats:italic>KCNJ11<\/jats:italic> genes, which encode the sulfonylurea receptor 1 and Kir6.2 subunits of the ATP-sensitive K<jats:sup>+<\/jats:sup> (K<jats:sub>ATP<\/jats:sub>) channel in pancreatic \u03b2-cell, are the most common cause of CHI. We studied the genetic etiology and phenotypes of CHI in Korean patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:italic>ABCC8<\/jats:italic> and <jats:italic>KCNJ11<\/jats:italic> mutational analysis was performed in 17 patients with CHI. Medical records were retrospectively reviewed to identify phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutations (12 <jats:italic>ABCC8<\/jats:italic> and three <jats:italic>KCNJ11<\/jats:italic>) were identified in 82% (14\/17) of patients. Of these, nine <jats:italic>ABCC8<\/jats:italic> mutations (E100X, W430X, c.1630+1G&gt;C, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) and one <jats:italic>KCNJ11<\/jats:italic> mutation (W91X) were novel. Of the 14 patients, four had confirming recessively inherited CHI. The remaining ten patients had single heterozygous mutations. The majority (12\/17) of patients were medically responsive. Of the five diazoxide-responsive patients, four had an <jats:italic>ABCC8<\/jats:italic> mutation. The five patients unresponsive to medical management and one diazoxide-responsive patient underwent pancreatectomy and had diffuse histology. Of the operated six patients, two had recessively inherited mutations; three patients had a single heterozygous mutation (one maternally and two paternally inherited); and one patient had no identifiable K<jats:sub>ATP<\/jats:sub> channel mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first study to report genotype and phenotype correlations among Korean patients with CHI. Mutations in <jats:italic>ABCC8<\/jats:italic> and <jats:italic>KCNJ11<\/jats:italic> are the most common causes of CHI in Korean patients. Similar to other studies, there is marked genetic heterogeneity and no clear genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-11-0160","type":"journal-article","created":{"date-parts":[[2011,3,22]],"date-time":"2011-03-22T04:56:41Z","timestamp":1300769801000},"page":"919-926","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":31,"title":["Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism"],"prefix":"10.1093","volume":"164","author":[{"given":"So Eun","family":"Park","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Choong Ho","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sei Won","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/164\/6\/919.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/164\/6\/919.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:26:34Z","timestamp":1676391994000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/164\/6\/919\/6677031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6]]},"references-count":0,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/eje-11-0160","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6]]}}}