title: Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
abstract: Kabuki syndrome is a rare, multiple congenital anomaly/mental retardation syndrome caused by MLL2 point mutations and KDM6A microdeletions. We screened a large cohort of MLL2 mutation-negative patients for MLL2 and KDM6A exon(s) microdeletion and microduplication. Our assays failed to detect such rearrangements in MLL2 as well as in KDM6A gene. These results show that these genomic events are extremely rare in the Kabuki syndrome, substantiating its genetic heterogeneity and the search for additional causative gene(s).
authors: Unita' Operativa di Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
authors: Manuela
authors: M
authors: Priolo
authors: Lucia
authors: L
authors: Micale
authors: Bartolomeo
authors: B
authors: Augello
authors: Carmela
authors: C
authors: Fusco
authors: Federica
authors: F
authors: Zucchetti
authors: Paolo
authors: P
authors: Prontera
authors: Valeria
authors: V
authors: Paduano
authors: Elisa
authors: E
authors: Biamino
authors: Angelo
authors: A
authors: Selicorni
authors: Corrado
authors: C
authors: Mammì
authors: Carmelo
authors: C
authors: Laganà
authors: Leopoldo
authors: L
authors: Zelante
authors: Giuseppe
authors: G
authors: Merla
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D018740:Genetic Heterogeneity; D006402:Hematologic Diseases / Q000175:diagnosis / Q000235:genetics*; D056466:Histone Demethylases / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D015837:Vestibular Diseases / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human