[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].
OBJECTIVE
To explore the disease associated gene mutation of multiple exostoses by family analysis.


METHODS
Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.


RESULTS
We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.


CONCLUSIONS
The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.
Li
Wei
W
National Key Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China.
Hu
Zheng-Mao
ZM
Xie
Zhi-Guo
ZG
He
Hong-Bo
HB
Pan
Qian
Q
Xia
Kun
K
Xia
Jia-Hui
JH
D019943:Amino Acid Substitution; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014443:Tyrosine / Q000235:genetics; D000099058:Exostosin 1
D014443:Tyrosine; D006639:Histidine; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1