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The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with Hereditary Multiple Exostoses
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  • Wanlu Liu,
  • Xinwei Shi,
  • Yuqi Li,
  • Fuyuan Qiao,
  • Yuanyuan Wu
Wanlu Liu
Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology

Corresponding Author:liuwanlu870609@163.com

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Xinwei Shi
Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology
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Yuqi Li
Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology
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Fuyuan Qiao
Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology
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Yuanyuan Wu
Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology
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Abstract

A novel heterozygous mutation (c.325dup) was identified in EXT1 gene from the proband and the affected family members; this mutation was absent in all the unaffected family members. The identification of the novel frameshift insertion mutation (c.325dup) expands the mutation spectrum of HME, which provides new evidence for HME diagnosis.
27 Dec 2021Submitted to Clinical Case Reports
27 Dec 2021Submission Checks Completed
27 Dec 2021Assigned to Editor
25 May 2022Reviewer(s) Assigned
02 Jun 2022Review(s) Completed, Editorial Evaluation Pending
03 Jun 2022Editorial Decision: Revise Minor
11 Aug 20221st Revision Received
12 Aug 2022Submission Checks Completed
12 Aug 2022Assigned to Editor
12 Aug 2022Review(s) Completed, Editorial Evaluation Pending
19 Aug 2022Editorial Decision: Accept
Sep 2022Published in Clinical Case Reports volume 10 issue 9. 10.1002/ccr3.6298