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BMC Medical Genetics

, 16:26

First Online: 21 April 2015Received: 01 November 2014Accepted: 30 March 2015

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.

KeywordsKabuki syndrome KMT2D Chinese Series Dandy-Walker syndrome Spinal bifida  Download fulltext PDF



Autor: Shuang Liu - Xiafei Hong - Cheng Shen - Quan Shi - Jian Wang - Feng Xiong - Zhengqing Qiu

Fuente: https://link.springer.com/



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