Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas

  • Authors:
    • Yang Xu
    • Qinglin Kang
    • Zhenlin Zhang
  • View Affiliations

  • Published online on: August 14, 2017     https://doi.org/10.3892/mmr.2017.7252
  • Pages: 5599-5605
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Abstract

The aim of the present study was to identify mutations of major causative genes in six unrelated Chinese families with multiple osteochondromas (MO). Radiographic examinations and genetic analyses were performed in 8 patients exhibiting typical features of MO. Analysis was also performed on unaffected members of the six families and 250 healthy volunteers. Radiographies of the patients revealed multiple exostoses in the cartilage of long bones. A total of five different mutations were identified, one in exostosin‑1 (EXT1) and four in exostosin‑2 (EXT2). Two novel mutations were detected in EXT2: A missense mutation, c.1385G>A, in exon 8, resulting in p.Trp462X; and a splice site mutation, c.725+1G>C, which consisted of a heterozygous guanine‑to‑cytosine transition at nucleotide 725+1 in intron 3. Three common EXT mutations were also detected: c.1036C>T in exon 5 of EXT2 resulting in p.Gln346X; c.1299C>A in exon 8 of EXT2 resulting in p.Phe433Leu; and c.1038A>T in exon 2 of EXT1 resulting in p.Arg346Ser. In conclusion, the present study identified a novel missense mutation (c.1385G>A) in exon 8 and a splicing mutation (c.725+1G>C) in intron 3 of the EXT2 gene, which are responsible for MO in certain Chinese patients. The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO.

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October-2017
Volume 16 Issue 4

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

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Spandidos Publications style
Xu Y, Kang Q and Zhang Z: Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. Mol Med Rep 16: 5599-5605, 2017.
APA
Xu, Y., Kang, Q., & Zhang, Z. (2017). Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. Molecular Medicine Reports, 16, 5599-5605. https://doi.org/10.3892/mmr.2017.7252
MLA
Xu, Y., Kang, Q., Zhang, Z."Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas". Molecular Medicine Reports 16.4 (2017): 5599-5605.
Chicago
Xu, Y., Kang, Q., Zhang, Z."Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas". Molecular Medicine Reports 16, no. 4 (2017): 5599-5605. https://doi.org/10.3892/mmr.2017.7252