A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis

2001

Mutation in EXT2 Gene Linked to Hereditary Multiple Exostosis

Sample size: 69 publication Evidence: moderate

Author Information

Author(s): Xiao C Y, Wang J, Zhang S Z, Hul W Van, Wuyts W, Qiu W M, Wu H, Zhang G

Primary Institution: Department of Medical Genetics, West China Medical Center, Sichuan University

Is there a specific mutation in the EXT2 gene that causes hereditary multiple exostoses in a large Chinese family?

A deletion mutation in the EXT2 gene was identified as the cause of hereditary multiple exostoses in a large Chinese family.

The EXT phenotype was linked to the EXT2 gene through 2-point linkage analysis.
A deletion of a G in exon 3 of the EXT2 gene was found.
The deletion co-segregated with the disease phenotype in the family.
Chondrosarcoma occurred in at least 4 family members after exostosis operations or injuries.

Scientists found a change in a gene that causes a family to have a bone condition where they grow extra bone bumps.

Blood samples were collected from family members and analyzed using linkage analysis, PCR-SSCP, and DNA sequencing.

The study does not clarify whether operations or injuries caused malignant transformations in some family members.

69 family members, including 23 affected individuals from a large Chinese family.

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