Identification of mutation in a candidate gene for hereditary multiple exostoses type II.
OBJECTIVE
To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type II (EXT2) in affected members of EXT families so as to confirm that it is the disease-causing gene.


METHODS
The mutation was detected first by single strand conformational polymorphism (SSCP) of all coding exons of the candidate gene and then by sequencing analysis.


RESULTS
After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2-bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids.


CONCLUSIONS
The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease-causing gene of EXT).
Xu
L
L
National Laboratory of Medical Genetics, Hunan Medical University, Changsha 410078, China.
Deng
H
H
Xia
J
J
Li
H
H
Zhou
J
J
Wang
D
D
Pan
Q
Q
Long
Z
Z
D000595:Amino Acid Sequence; D001483:Base Sequence; D001859:Bone Neoplasms / Q000209:etiology / Q000235:genetics*; D002813:Chondrosarcoma / Q000209:etiology / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D004273:DNA, Neoplasm / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000145:classification / Q000150:complications / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008969:Molecular Sequence Data; D017354:Point Mutation
D004273:DNA, Neoplasm