Open Access

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation

  • Authors:
    • Wentao Wang
    • Mingyuan Yang
    • Yuhang Shen
    • Kai Chen
    • Donghua Wu
    • Changwei Yang
    • Jinyi Bai
    • Dawei He
    • Jun Gao
  • View Affiliations

  • Published online on: February 24, 2022     https://doi.org/10.3892/mmr.2022.12657
  • Article Number: 141
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT‑2) gene. A patient with multiple exostoses with huge cartilage‑capped tumors in scapula, knees and ankles received surgery in Department of Orthopedics (Shanghai Changhai Hospital). A total of 20 family members were recruited to the study, with seven members (five male; two female) diagnosed as HME. The family members of the patients with HME were examined, clinical data and peripheral blood samples were collected, and their DNA was sequenced. The incidence of HME in this family pedigree was 35%. Exostoses were most frequently in the tibiae with occurrence in six patients, followed by ribs, femurs, radii, fibulae, scapulae and humeri. DNA sequencing of peripheral blood revealed a novel deletion mutation, c.824‑826delGCA, in exon 5 of the EXT‑2 gene, which was observed in all the patients with HME, but not in the healthy family members. Several characteristics of HME in the pedigree were observed, such as susceptibility of male gender, decreased average age of onset and height and increased severity of clinical symptoms with generations.
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April-2022
Volume 25 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Wang W, Yang M, Shen Y, Chen K, Wu D, Yang C, Bai J, He D and Gao J: Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation. Mol Med Rep 25: 141, 2022
APA
Wang, W., Yang, M., Shen, Y., Chen, K., Wu, D., Yang, C. ... Gao, J. (2022). Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation. Molecular Medicine Reports, 25, 141. https://doi.org/10.3892/mmr.2022.12657
MLA
Wang, W., Yang, M., Shen, Y., Chen, K., Wu, D., Yang, C., Bai, J., He, D., Gao, J."Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation". Molecular Medicine Reports 25.4 (2022): 141.
Chicago
Wang, W., Yang, M., Shen, Y., Chen, K., Wu, D., Yang, C., Bai, J., He, D., Gao, J."Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation". Molecular Medicine Reports 25, no. 4 (2022): 141. https://doi.org/10.3892/mmr.2022.12657