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Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단

Other Titles
 Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing 
 홍준호  ;  김세희  ;  이승태  ;  최종락  ;  강훈철  ;  이준수  ;  김흥동 
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.26(4) : 272-275, 2018 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
Issue Date
Developmental disabilities ; ANKRD11 protein ; KBG syndrome
KBG 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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
강훈철(Kang, Hoon Chul) ORCID logo https://orcid.org/0000-0002-3659-8847
김세희(Kim, Se Hee) ORCID logo https://orcid.org/0000-0001-7773-1942
김흥동(Kim, Heung Dong) ORCID logo https://orcid.org/0000-0002-8031-7336
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
이준수(Lee, Joon Soo) ORCID logo https://orcid.org/0000-0001-9036-9343
최종락(Choi, Jong Rak) ORCID logo https://orcid.org/0000-0002-0608-2989
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