Title: Mutations of EXT2 gene in patients with multiple exostoses
Abstract: AIM: To investigate the mutations of EXT1 and EXT2 genes in the probands of 2 families with multiple exostoses.METHODS: All coding exons and exon-intron boundaries of EXT1 and EXT2 genes were amplified by PCR.The PCR products were sequenced.Fifty normal subjects were also sequenced for the novel mutation in EXT2.RESULTS: A known mutation c.668GC(p.Arg223Pro) in EXT2 gene was detected in family 1,the missense mutation replaced arginine with proline at codon 223.A novel mutation c.950delT(p.Phe317SerfsX15) in EXT2 was detected in the proband of family 2.This mutation was undetectable in her parents,indicating a de novo mutation.This mutation caused the shift of open reading frame,thus introducing a premature termination and resulting in truncation of the 388 amino acids at the C terminus,wiping out part of the exostosin domain and the whole glyco-transf-64 domain of the protein.CONCLUSION: Our results show that the mutations c.668GC(p.Arg223Pro) and c.950delT(p.Phe317SerfsX15) in EXT2 gene indicate the molecular mechanism for the development of multiple exostoses in the families.The results can be used for molecular diagnosis.
Publication Year: 2011
Publication Date: 2011-01-01
Language: en
Type: article
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