Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

  • Leonardo Bonini Fischetti Universidade Presbiteriana Mackenzie
  • Julia Zaccarelli Magalhães Faculdade de Medicina Veterinária e Zootecnia da Universidade de São Paulo
  • André Rinaldi Fukushima Faculdade de Medicina Veterinária e Zootecnia da Universidade de São Paulo
  • Paula Waziry Kiran C. Patel College of Osteopathic Medicine, Institute for Neuro-Immune Medicine, Nova Southeastern University
  • Esther Lopes Ricci Universidade Presbiteriana Mackenzie e Faculdade de Ciências da Saúde IGESP

Abstract

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

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Published
2019-02-28
How to Cite
Bonini Fischetti, L., Magalhães, J. Z., Rinaldi Fukushima, A., Waziry, P., & Lopes Ricci, E. (2019). Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation, 12(1). https://doi.org/10.22280/revintervol12ed1.426