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

Leonardo Bonini Fischetti,Esther Lopes Ricci,Julia Zaccarelli Magalhães,Paula Waziry,André Rinaldi Fukushima

doi:10.22280/revintervol12ed1.426

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.

Highlights

Point mutations are a type of genetic mutation that occur through the addition, deletion or substitution of nitrogenous bases at a locus of a chromosome, capable of causing a genetic disease (JORDE et al, 2004)
In order to determine the presence of delayed postnatal development (DPD), patients were subjected to evaluations that determined possible delays in characteristic milestones such as: speech, standing between the first and second year of life, and difficulty in understanding words
Kabuki Syndrome has recently been described and it’s considered as rare, the objective of this work was to carry out a systematic review of case reports referring to characteristic phenotypes of individuals with this syndrome, in order to increase knowledge about the disease and facilitate diagnosis

Summary

Introduction

Point mutations are a type of genetic mutation that occur through the addition, deletion or substitution of nitrogenous bases at a locus of a chromosome, capable of causing a genetic disease (JORDE et al, 2004) These diseases are congenital and can be classified as either monogenic when it occurs due to mutation of a single gene or multifactorial, when caused by other factors such as the environment and involvement of multiple genes (JUNIOR; IANOTTI, 2010). Kabuki syndrome is a rare multifactorial congenital genetic disease with a ratio of 1: 32,000 live births (LU et al, 2016) It is called Kabuki Makeup Syndrome or Niikawa-Kuroki Syndrome due to the presence of abnormal facial characteristics, which resemble the makeup of actors from the Japanese traditional Kabuki theater (KUROKI et al, 1981; NIIKAWA et al, 1981).

Objectives

Results

Conclusion