A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.
Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the presence of bony outgrowths on the long bones. In this report, we describe a Chinese family with HME. Linkage analysis and mutation detection were performed. Linkage with the EXT2 was established in this family. A novel mutation, EXT2 c239-244delG, was identified. Mutation analysis in a family with HME allows for genetic counseling and prenatal diagnosis.
Liu
Shi Guo
SG
Graduate School of Peking Union Medical College, Beijing, China., National Research Institute for Family Planning, Beijing, China.
Lu
De Guo
DG
Liu
Zhong Qiang
ZQ
Liu
Chang Ying
CY
Zhang
An Ying
AY
Li
Zhen Qian
ZQ
Ma
Xu
X
D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D005796:Genes; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype