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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 mutation	Chromosome rearrangement	Effect	Comments
	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)