title: A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.
abstract: KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
authors.forename: Ji-Hun
authors.initials: JH
authors.lastname: Lim
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Yoo-Mi
authors.initials: YM
authors.lastname: Kim
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Hyun-Ju
authors.initials: HJ
authors.lastname: Cho
authors.affiliation: Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.
authors.forename: Jin-Ok
authors.initials: JO
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Pusan National University Children's Hospital, Busan, Korea.
authors.forename: Chong Kun
authors.initials: CK
authors.lastname: Cheon
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization; D004569:Electroencephalography; D019066:Facies; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D056910:Republic of Korea; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics*
chemical_list: C492515:ANKRD11 protein, human; D012097:Repressor Proteins
keywords: 16q24.3 microdeletion; ANKRD11; Array CGH; KBG syndrome