Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing

Liu,Hongjie; Wu,Song; Duan,Li; Zhu,Weiming; Zhang,Shiquan; Hu,Xiaoxiao; Jia,Wenlong; Yang,Guosheng; Liu,Chunxiao; Li,Weiping; Yang,Lei; Guo,Lijun; Lin,Youcheng; Wang,Yongqiang; He,Meijian; Yang,Zhao; He,Yingying; Cai,Zhiming; Wang,Daping

doi:10.3892/or.2014.3610

February-2015 Volume 33 Issue 2

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February-2015 Volume 33 Issue 2

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Article Open Access

Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing

Authors:
- Hongjie Liu
- Song Wu
- Li Duan
- Weiming Zhu
- Shiquan Zhang
- Xiaoxiao Hu
- Wenlong Jia
- Guosheng Yang
- Chunxiao Liu
- Weiping Li
- Lei Yang
- Lijun Guo
- Youcheng Lin
- Yongqiang Wang
- Meijian He
- Zhao Yang
- Yingying He
- Zhiming Cai
- Daping Wang
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Affiliations: College of Life Science, University of Chinese Academy of Sciences College, Beijing 100049, P.R. China, Shenzhen Second People's Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen 518000, P.R. China, BGI Tech Solutions Co., Ltd., Beishan Industrial Zone, Shenzhen 518083, P.R. China, Department of Urology, Zhujiang Hospital of Southern Medical University, Guangzhou 510000, P.R. China, Key Laboratory of Infection and Immunity of CAS, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, P.R. China

Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
Pages: 547-552
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Published online on: November 21, 2014

https://doi.org/10.3892/or.2014.3610
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Abstract

Hereditary multiple exostosis (HME) is an autosomal inherited skeletal disease whose etiology is not fully understood. To further understand the genetic spectrum of the disease, we analyzed a five-generation Chinese family with HME that have observable inheritance. Exome sequencing was performed on three HME individuals and three unaffected individuals from the family. A downstream study confirmed a new C deletion at codon 442 on exon 5 of the exostosin-1 (EXT1) gene as the only pathogenic site which generated a stop codon and caused the truncation of the protein. We rediscovered the deletion in other affected individuals but not in the unaffected individuals from the family. Upon immunohistochemistry assay, we found that the EXT1 protein level of the patients with the novel mutation in our study was less than the level in the patients without the EXT1 mutation from another unrelated family. For a deeper understanding, we analyzed the mutation spectrum of the EXT1 gene. The present study should facilitate a further understanding of HME.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing

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