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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, including two frameshift indels, one nonsense mutation and two missense mutations.    Conclusions  This 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.

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