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Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단

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dc.contributor.author강훈철-
dc.contributor.author김세희-
dc.contributor.author김흥동-
dc.contributor.author이승태-
dc.contributor.author이준수-
dc.contributor.author최종락-
dc.date.accessioned2019-02-12T16:47:17Z-
dc.date.available2019-02-12T16:47:17Z-
dc.date.issued2018-
dc.identifier.issn1226-6884-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/167144-
dc.description.abstractKBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageKorean-
dc.publisher대한소아신경학회-
dc.relation.isPartOfJournal of the Korean Child Neurology Society-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleDiagnostic exome sequencing을 통한 KBG 증후군의 조기 진단-
dc.title.alternativeEarly Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthor홍준호-
dc.contributor.googleauthor김세희-
dc.contributor.googleauthor이승태-
dc.contributor.googleauthor최종락-
dc.contributor.googleauthor강훈철-
dc.contributor.googleauthor이준수-
dc.contributor.googleauthor김흥동-
dc.identifier.doi10.26815/jkcns.2018.26.4.272-
dc.contributor.localIdA00102-
dc.contributor.localIdA00611-
dc.contributor.localIdA01208-
dc.contributor.localIdA04627-
dc.contributor.localIdA03177-
dc.contributor.localIdA04182-
dc.relation.journalcodeJ01815-
dc.subject.keywordDevelopmental disabilities-
dc.subject.keywordANKRD11 protein-
dc.subject.keywordKBG syndrome-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.affiliatedAuthor강훈철-
dc.contributor.affiliatedAuthor김세희-
dc.contributor.affiliatedAuthor김흥동-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor이준수-
dc.contributor.affiliatedAuthor최종락-
dc.citation.volume26-
dc.citation.number4-
dc.citation.startPage272-
dc.citation.endPage275-
dc.identifier.bibliographicCitationJournal of the Korean Child Neurology Society, Vol.26(4) : 272-275, 2018-
dc.identifier.rimsid58124-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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