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

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 e...

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Autores principales: Liu, Shuang, Hong, Xiafei, Shen, Cheng, Shi, Quan, Wang, Jian, Xiong, Feng, Qiu, Zhengqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630853/
https://www.ncbi.nlm.nih.gov/pubmed/25896430
http://dx.doi.org/10.1186/s12881-015-0171-4
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author Liu, Shuang
Hong, Xiafei
Shen, Cheng
Shi, Quan
Wang, Jian
Xiong, Feng
Qiu, Zhengqing
author_facet Liu, Shuang
Hong, Xiafei
Shen, Cheng
Shi, Quan
Wang, Jian
Xiong, Feng
Qiu, Zhengqing
author_sort Liu, Shuang
collection PubMed
description 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.
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spelling pubmed-46308532015-11-03 Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations Liu, Shuang Hong, Xiafei Shen, Cheng Shi, Quan Wang, Jian Xiong, Feng Qiu, Zhengqing BMC Med Genet Research Article 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. BioMed Central 2015-04-21 /pmc/articles/PMC4630853/ /pubmed/25896430 http://dx.doi.org/10.1186/s12881-015-0171-4 Text en © Liu et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Liu, Shuang
Hong, Xiafei
Shen, Cheng
Shi, Quan
Wang, Jian
Xiong, Feng
Qiu, Zhengqing
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
title Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
title_full Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
title_fullStr Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
title_full_unstemmed Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
title_short Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
title_sort kabuki syndrome: a chinese case series and systematic review of the spectrum of mutations
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630853/
https://www.ncbi.nlm.nih.gov/pubmed/25896430
http://dx.doi.org/10.1186/s12881-015-0171-4
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