{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T02:41:32Z","timestamp":1768444892051,"version":"3.49.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,14]]},"DOI":"10.7759\/cureus.101532","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T16:21:21Z","timestamp":1768407681000},"source":"Crossref","is-referenced-by-count":0,"title":["Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study"],"prefix":"10.7759","author":[{"given":"M\u00e9lanie","family":"Gaudilli\u00e8re","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thibaud","family":"Armand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Sen\u00e9e","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carine","family":"Villanueva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Nicolino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Perge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(81)80256-9","article-title":"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation","volume":"99","author":"Kuroki Y","year":"1981","unstructured":"Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr. 1981, 99:570-3. 10.1016\/s0022-3476(81)80256-9","journal-title":"J Pediatr"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(81)80255-7","article-title":"Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency","volume":"99","author":"Niikawa N","year":"1981","unstructured":"Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981, 99:565-9. 10.1016\/s0022-3476(81)80255-7","journal-title":"J Pediatr"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng SB","year":"2010","unstructured":"Ng SB, Bigham AW, Buckingham KJ, et al.. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010, 42:790-3. 10.1038\/ng.646","journal-title":"Nat Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220","article-title":"How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum","volume":"20","author":"Banka S","year":"2012","unstructured":"Banka S, Veeramachaneni R, Reardon W, et al.. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 2012, 20:381-8. 10.1038\/ejhg.2011.220","journal-title":"Eur J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1004-y","article-title":"A mutation screen in patients with Kabuki syndrome","volume":"130","author":"Li Y","year":"2011","unstructured":"Li Y, B\u00f6gershausen N, Alanay Y, et al.. A mutation screen in patients with Kabuki syndrome. Hum Genet. 2011, 130:715-24. 10.1007\/s00439-011-1004-y","journal-title":"Hum Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23026","article-title":"Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2","volume":"37","author":"B\u00f6gershausen N","year":"2016","unstructured":"B\u00f6gershausen N, Gatinois V, Riehmer V, et al.. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum Mutat. 2016, 37:847-64. 10.1002\/humu.23026","journal-title":"Hum Mutat"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021","article-title":"Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome","volume":"90","author":"Lederer D","year":"2012","unstructured":"Lederer D, Grisart B, Digilio MC, et al.. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012, 90:119-24. 10.1016\/j.ajhg.2011.11.021","journal-title":"Am J Hum Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625","article-title":"Kabuki syndrome: international consensus diagnostic criteria","volume":"56","author":"Adam MP","year":"2019","unstructured":"Adam MP, Banka S, Bjornsson HT, et al.. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019, 56:89-95. 10.1136\/jmedgenet-2018-105625","journal-title":"J Med Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2001.14.2.215","article-title":"Two patients with Kabuki syndrome presenting with endocrine problems","volume":"14","author":"Bereket A","year":"2001","unstructured":"Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. Two patients with Kabuki syndrome presenting with endocrine problems. J Pediatr Endocrinol Metab. 2001, 14:215-20. 10.1515\/jpem.2001.14.2.215","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36256","article-title":"Hypoglycemia in Kabuki syndrome","volume":"164A","author":"Subbarayan A","year":"2014","unstructured":"Subbarayan A, Hussain K. Hypoglycemia in Kabuki syndrome. Am J Med Genet A. 2014, 164A:467-71. 10.1002\/ajmg.a.36256","journal-title":"Am J Med Genet A"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12453","article-title":"Congenital hypoglycemia disorders: new aspects of etiology, diagnosis, treatment and outcomes: highlights of the proceedings of the congenital hypoglycemia disorders symposium, Philadelphia, April 2016","volume":"18","author":"De Leon DD","year":"2017","unstructured":"De Leon DD, Stanley CA. Congenital hypoglycemia disorders: new aspects of etiology, diagnosis, treatment and outcomes: highlights of the proceedings of the congenital hypoglycemia disorders symposium, Philadelphia, April 2016. Pediatr Diabetes. 2017, 18:3-9. 10.1111\/pedi.12453","journal-title":"Pediatr Diabetes"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0059-x","article-title":"Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties","volume":"40","author":"Maiorana A","year":"2017","unstructured":"Maiorana A, Dionisi-Vici C. Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. J Inherit Metab Dis. 2017, 40:531-42. 10.1007\/s10545-017-0059-x","journal-title":"J Inherit Metab Dis"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000645","article-title":"Genetic characteristics of patients with congenital hyperinsulinism","volume":"30","author":"Vajravelu ME","year":"2018","unstructured":"Vajravelu ME, De Le\u00f3n DD. Genetic characteristics of patients with congenital hyperinsulinism. Curr Opin Pediatr. 2018, 30:568-75. 10.1097\/MOP.0000000000000645","journal-title":"Curr Opin Pediatr"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30144","article-title":"Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature","volume":"129A","author":"Genevi\u00e8ve D","year":"2004","unstructured":"Genevi\u00e8ve D, Amiel J, Viot G, et al.. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A. 2004, 129A:64-8. 10.1002\/ajmg.a.30144","journal-title":"Am J Med Genet A"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1219-x","article-title":"Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature","volume":"14","author":"Shangguan H","year":"2019","unstructured":"Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. Orphanet J Rare Dis. 2019, 14:255. 10.1186\/s13023-019-1219-x","journal-title":"Orphanet J Rare Dis"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12081","article-title":"MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study","volume":"84","author":"Makrythanasis P","year":"2013","unstructured":"Makrythanasis P, van Bon BW, Steehouwer M, et al.. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013, 84:539-45. 10.1111\/cge.12081","journal-title":"Clin Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12574","article-title":"Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia","volume":"57","author":"Gohda Y","year":"2015","unstructured":"Gohda Y, Oka S, Matsunaga T, Watanabe S, Yoshiura K, Kondoh T, Matsumoto T. Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia. Pediatr Int. 2015, 57:726-8. 10.1111\/ped.12574","journal-title":"Pediatr Int"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5860","article-title":"MLL2: a new mammalian member of the trx\/MLL family of genes","volume":"59","author":"FitzGerald KT","year":"1999","unstructured":"FitzGerald KT, Diaz MO. MLL2: a new mammalian member of the trx\/MLL family of genes. Genomics. 1999, 59:187-92. 10.1006\/geno.1999.5860","journal-title":"Genomics"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01506-06","article-title":"Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth","volume":"27","author":"Issaeva I","year":"2007","unstructured":"Issaeva I, Zonis Y, Rozovskaia T, et al.. Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth. Mol Cell Biol. 2007, 27:1889-903. 10.1128\/MCB.01506-06","journal-title":"Mol Cell Biol"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363","article-title":"Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)","volume":"87","author":"Banka S","year":"2015","unstructured":"Banka S, Lederer D, Benoit V, et al.. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet. 2015, 87:252-8. 10.1111\/cge.12363","journal-title":"Clin Genet"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.4081\/cp.2016.848","article-title":"Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review","volume":"6","author":"Gole H","year":"2016","unstructured":"Gole H, Chuk R, Coman D. Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review. Clin Pract. 2016, 6:848. 10.4081\/cp.2016.848","journal-title":"Clin Pract"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1263-x","article-title":"Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate","volume":"132","author":"Lindgren AM","year":"2013","unstructured":"Lindgren AM, Hoyos T, Talkowski ME, et al.. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013, 132:537-52. 10.1007\/s00439-013-1263-x","journal-title":"Hum Genet"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.2337\/db17-0029","article-title":"Functional and metabolomic consequences of K(ATP) channel inactivation in human islets","volume":"66","author":"Li C","year":"2017","unstructured":"Li C, Ackermann AM, Boodhansingh KE, et al.. Functional and metabolomic consequences of K(ATP) channel inactivation in human islets. Diabetes. 2017, 66:1901-13. 10.2337\/db17-0029","journal-title":"Diabetes"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0013-9","article-title":"Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals","volume":"21","author":"Yap KL","year":"2019","unstructured":"Yap KL, Johnson AE, Fischer D, et al.. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019, 21:233-42. 10.1038\/s41436-018-0013-9","journal-title":"Genet Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/443355-clinical-presentation-and-molecular-characteristics-of-kabuki-syndrome-with-congenital-hyperinsulinism-a-retrospective-study","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T16:21:22Z","timestamp":1768407682000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/443355-clinical-presentation-and-molecular-characteristics-of-kabuki-syndrome-with-congenital-hyperinsulinism-a-retrospective-study"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,14]]},"references-count":24,"URL":"https:\/\/doi.org\/10.7759\/cureus.101532","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1,14]]}}}