[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].
OBJECTIVE
To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation.


METHODS
Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation.


RESULTS
By DNA sequencing, a mutation in the seventh intron was detected and located at 26 bp of 3' splice site upstream in EXT1 gene, which was unreported before. Mismatch primer amplification and restriction fragment length polymorphism analysis suggested that this mutation was not detected in the normal control.


CONCLUSIONS
The mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.
Xie
Zhi-guo
ZG
National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078 P.R.China.
Hu
Zheng-mao
ZM
Pan
Qian
Q
Zhang
Rui-fang
RF
Liang
De-sheng
DS
Wu
Ling-qian
LQ
Long
Zhi-gao
ZG
Dai
He-ping
HP
Xia
Kun
K
Xia
Jia-hui
JH
D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D055815:Young Adult; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1