Kabuki syndrome revisited.

[kabuki syndrome]

Kabuki syndrome (KS ) is a congenital syndrome with an estimated prevalence of 1 in 32 000 . Individuals with the syndrome have multiple malformations , but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition . Discovered in 1981 by two independent groups of Japanese scientists , spearheaded by Yoshikazu Kuroki and Norio Niikawa , much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered , with no definitive conclusions about its etiology having ever been established . Recently , mutations within the MLL 2 gene have been identified as potentially implicative . Mutations within the MLL 2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals , but also because of pre-existing information in the literature having validated mutant MLL 2 genes in KS as a highly significant finding . Although found to be present in the majority of cases , the absence of MLL 2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity , and further still , present with more complex inter genomic interactions than initially proposed .