Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 02-01-2017
Symbol KABUK1
Location 12q13.12
Name Kabuki syndrome 1
Other name(s)
  • Kabuki-Make-up syndrome
  • Niikawa-Kuroki syndrome
  • Corresponding gene KMT2D
    Other symbol(s) KS, KMS
    Main clinical features
  • mental retardation, postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads
  • radiographic abnormalities of the vertebrae, hands, and hip joints, recurrent otitis and in any cases cardiovascular malformation, coloboma, and other ophtalmologic anomalies
  • hearing loss was found in 65 p100 showing a mix or a conductive impairment; moreover the vestibular function was normal in 95p100 of the examined ears (Barozzi 2009)
  • Genetic determination autosomal dominant
    Prevalence 56 76p100 of affected individuals
    Function/system disorder congenital malformation
    Type MCA/MR
    Gene product
    Name encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   NOT CONFIRMED: a 3.5 Mb duplication in 8p22-p23, and a triplication in another case
    various types   haploinsufficiency in 75p.cent of patients,with a majority of novel nonsense or frameshift mutations PMID: 21280141, PMID: 21671394
    Remark(s)