A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses.
- Author:
Zhi-guo XIE
1
;
Zheng-mao HU
;
Qian PAN
;
Rui-fang ZHANG
;
De-sheng LIANG
;
Ling-qian WU
;
Zhi-gao LONG
;
He-ping DAI
;
Kun XIA
;
Jia-hui XIA
Author Information
- Publication Type:Case Reports
- MeSH: DNA Mutational Analysis; Exostoses, Multiple Hereditary; genetics; Female; Humans; Mutation; N-Acetylglucosaminyltransferases; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2006;23(2):147-150
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation.
METHODSPolymerase 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.
RESULTSBy 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.
CONCLUSIONThe mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.
