Objective: To explore the disease associated gene mutation of multiple exostoses by family analysis.
Methods: Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.
Results: We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.
Conclusion: The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.