title: De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
abstract: Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and mental retardation. Exonic deletions, disrupting the lysine (K)-specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. Here, we report a de novo 227-kb deletion in chromosome Xp11.3 of a 7-year-old Chinese girl with KS. Besides the symptoms of KS, the patient also presented with skin allergic manifestations, which were considered to be a new, rare feature of the phenotypic spectrum. The deletion includes the upstream region and exons 1-2 of KDM6A and potentially causes haploinsuffiency of the gene. We also discuss the mutation spectrum of KDM6A and clinical variability of patients with KDM6A deletion through a literature review. © 2016 Wiley Periodicals, Inc.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Pu
authors.initials: P
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Hu
authors.initials: H
authors.lastname: Tan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.affiliation: Department of Haematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Yu
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Xianda
authors.initials: X
authors.lastname: Wei
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Ruolan
authors.initials: R
authors.lastname: Guo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.|Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Haoxian
authors.initials: H
authors.lastname: Li
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Libin
authors.initials: L
authors.lastname: Mei
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Yanru
authors.initials: Y
authors.lastname: Huang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D050172:Genes, X-Linked; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics*; D056466:Histone Demethylases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009687:Nuclear Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics*; D049951:X Chromosome Inactivation
chemical_list: D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human
keywords: Kabuki syndrome; clinical variability; lysine (K)-specific demethylase 6A; skin allergic manifestations