Kabuki syndrome and cancer in two patients

American Journal of Medical Genetics Part A (Impact Factor: 2.3). 05/2010; 152A(6):1536 - 1539. DOI: 10.1002/ajmg.a.33405

ABSTRACT Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith–Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma. © 2010 Wiley-Liss, Inc.

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    ABSTRACT: 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 MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 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 MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 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.
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    ABSTRACT: The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome has shed new light on the pathogenesis of this well delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for Kabuki syndrome and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Kabuki syndrome, provide genotype-phenotype correlations, and propose a strategic clinical and molecular diagnostic approach for patients with suspected Kabuki syndrome.
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May 29, 2014