A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by benign bone tumors. In this report, we describe two unrelated Chinese families with HME. Linkage analysis and mutation detection was performed. Clinical analysis was also performed for some affected individual in both families. Linkage with the EXT2 was established in both families. A novel mutation, c505 G > T, was identified in both families. Further allelic heterogeneity of EXT2 was demonstrated by the intrafamilial and interfamilial variability in clinical phenotype.
Liu
Shi Guo
SG
Graduate School of Peking Union Medical College, Beijing, China.
Li
Fei Feng
FF
Huang
Shang Zhi
SZ
Chen
Yang
Y
Wang
Jun
J
Lu
De Guo
DG
Zhang
Meng
M
Ma
Xu
X
D000293:Adolescent; D000328:Adult; D022981:Allelic Imbalance; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D000099065:Exostosin 2
D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2