Identification of mutations in the human EXT1 and EXT2 genes

G. Song*, J. Zhou, J. Xia, H. Deng, L. Xu, L. Huang, Q. Ruan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Objective: To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease. Methods: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used to examine the entire coding regions of EXT1 gene on chromosome 8 and EXT2 gene on chromosome 11 for mutation in thirty EXT families. Mutations were further identified by sequencing. Results: Two frameshift mutations were identified in two unrelated EXT families. One was the deletion of one base(T) in exon 6 of the EXT1 gene, and the other was the deletion of four bases (tgtt) in exon 2 of the EXT2 gene. Both of the mutations resulted in a frameshift and premature termination of translation. Conclusion: EXT is a genetically heterogeneous bone disorder caused by the mutation of EXT tumor suppressor gene. These results could be directly applied in the genetic counselling and prenatal genetic diagnosis of EXT.

Original languageEnglish (US)
Pages (from-to)208-210
Number of pages3
JournalChinese Journal of Medical Genetics
Issue number4
StatePublished - 1999


  • Gene mutation
  • Hereditary multiple exostoses
  • Polymerase chain reaction-single strand conformation polymorphism

ASJC Scopus subject areas

  • General Medicine


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