Abstract
BackgroundKabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.MethodsWe retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D.ResultsThe patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations.ConclusionsThis is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.
Highlights
Kabuki syndrome is a rare hereditary disease affecting multiple organs
The diagnostic criteria for Kabuki syndrome were mainly based on the typical clinical manifestations, which were established by analyzing a group of sixty-two patients with Kabuki syndrome in 1988 [2]
The underlying genetic mutation of Kabuki syndrome was not revealed until the year 2010, when exome sequencing identified MLL2 mutations in Kabuki syndrome patients (Kabuki syndrome 1, OMIM 147920) [4]
Summary
The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. Kabuki syndrome or Kabuki make-up syndrome was originally described in 1981 following observations of five Japanese children whose conditions were characterized by mental retardation, dwarfism and peculiar faces and abnormal dermatoglyphics [1]. Five cardinal manifestations were frequently observed in patients with Kabuki syndrome and could be used as diagnostic clues, including peculiar facial appearances, mild-to-moderate mental retardation, dermatoglyphic abnormalities, skeletal. KMT2D mutations alone were not able to account for all Kabuki syndrome cases. Mutations in the KDM6A gene, which encodes a histone demethylase that interacts with KMT2D, were identified (Kabuki syndrome 2, Liu et al BMC Medical Genetics (2015) 16:26
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