[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].
OBJECTIVE
To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.


METHODS
Linkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced. The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to amplify the mutated mRNA.


RESULTS
The disease-causing gene of the family was linked to the EXT2 locus on chromosome 11. A mutation IVS2+1G>A was detected in EXT2 and resulting in 221 bp deletion from 316 to 536 of coding sequence(CDS), which was co-segregated with the disease phenotype. This change led to deletion from codon 106 to codon 178 and subsequent 2 nucleotides, producing a frameshift and truncated protein of 125 aa.


CONCLUSIONS
The mutation IVS2+1G>A is the disease-causing mutation in the Chinese pedigree with hereditary multiple exostoses.
Hu
Zheng-mao
ZM
National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078 PR China.
Zheng
Duo
D
Pan
Qian
Q
Yang
Yi-feng
YF
Zhao
Tian-li
TL
Liu
Xiao-ping
XP
Wu
Ling-qian
LQ
Jiang
Dong-gui
DG
Xia
Kun
K
Xia
Jia-hui
JH
D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000099065:Exostosin 2; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2