A novel mutation of EXT2 gene in a Chinese family with hereditary multiple exostosis

Objective: This study aimed to identify potential pathogenic mutations in EXT1 and EXT2 genes in a Chinese family with hereditary multiple exostosis (HME). Methods We directly sequenced exon regions (1–11 for EXT1 gene and 1–14 for EXT2 gene) after amplification of the genomic DNA extracted from the blood samples of the collected family. DANStar and comoparative analysis were used to confirm possible variants. Results The nonsense heterozygous mutation EXT2 c.67C > T, previously unreported in Chinese families, was discovered in all diseased individuals but not in normal family members of the pedigree. The EXT2 c.67C > T variation caused the introduction of a stop codon, leading to functional loss. No mutations were detected in the EXT1 gene. Conclusions The nonsense mutation EXT2 c.67C > T may be a possible cause of HME in this family.