title: Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
abstract: Kabuki syndrome (KS) (OMIM#147920) is a multiple congenital anomaly/mental retardation syndrome. Recently, pathogenic variants in KMT2D and KDM6A were identified as the causes of KS in 55.8-80.0% of patients. To elucidate further the molecular characteristics of Korean patients with KS, we screened a cohort of patients with clinically defined KS for mutations in KMT2D and KDM6A. Whole-exome sequencing and direct sequencing for validation were performed in 12 patients with a clinical suspicion of KS. KMT2D and KDM6A mutations were identified in 11 (91.7%) patients. No recurrent mutation was observed, and 10 out of the 11 mutations found were novel. KMT2D mutations were detected in 10 patients, including four small deletions or insertions and four nonsense and two missense mutations. One girl had a novel splice-site mutation in KDM6A. Each patient had a unique individual mutation. This is the first report of mutational analysis via exome sequencing in Korean patients with KS. Because the mutation-detection rate was high in this study, rigorous mutation analysis of KMT2D and KDM6A may be an important tool for the early diagnosis and genetic counseling of Korean patients with KS.
authors.affiliation: 1] Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea [2] Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
authors.forename: Chong Kun
authors.initials: CK
authors.lastname: Cheon
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea.
authors.forename: Yeoun Joo
authors.initials: YJ
authors.lastname: Lee
authors.affiliation: 1] Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea [2] Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
authors.forename: Ji Sun
authors.initials: JS
authors.lastname: Song
authors.affiliation: Theragen BiO Institute (TBI), Suwon, South Korea.
authors.forename: Jea Woo
authors.initials: JW
authors.lastname: Moon
authors.affiliation: Theragen BiO Institute (TBI), Suwon, South Korea.
authors.forename: Bo Kyoung
authors.initials: BK
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
authors.forename: Hyun-Seok
authors.initials: HS
authors.lastname: Jin
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
authors.forename: Seon-Yong
authors.initials: SY
authors.lastname: Jeong
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D059472:Exome; D005145:Face / Q000002:abnormalities*; D005260:Female; D006402:Hematologic Diseases / Q000235:genetics*; D056466:Histone Demethylases / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D056910:Republic of Korea; D015837:Vestibular Diseases / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human
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