Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

ABSTRACT:

Background

Kabuki 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.

Methods

We 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.

Results

The 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, includ

SUBMITTER: Liu S 

PROVIDER: S-EPMC4630853 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature