title: A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
abstract: Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A.
authors.affiliation: Center for Human Genetics, IPG, Charleroi, (Gosselies), Belgium.
authors.forename: Damien
authors.initials: D
authors.lastname: Lederer
authors.forename: Debbie
authors.initials: D
authors.lastname: Shears
authors.forename: Valérie
authors.initials: V
authors.lastname: Benoit
authors.forename: Christine
authors.initials: C
authors.lastname: Verellen-Dumoulin
authors.forename: Isabelle
authors.initials: I
authors.lastname: Maystadt
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D016368:Frameshift Mutation; D050172:Genes, X-Linked; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics*; D056466:Histone Demethylases / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human
keywords: KDM6A; Kabuki syndrome; X-linked; seizure