Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma.
Multiple osteochondroma (MO) is an autosomal dominant disease characterized by abnormal skeleton development: one or more exostoses localized mainly at the end of long bones. Three pathogenic gene loci have been identified and cloned: EXT1, 2, and 3. Only EXT1 and 2 mutations were reported to cause MO. Here, we report on a large Chinese family with MO and a disease-causing mutation in EXT. We extracted DNA from peripheral blood samples of 25 family members, 9 with MO. Polymerase chain reaction and direct DNA sequencing of the entire coding regions of EXT1 and 2 for the nine patients revealed a novel pathogenic mutation, insertion of a T in exon 2 (c.72-73 insT) of EXT2. Our results extend the mutational spectrum of MO and can help with genetic counseling and prenatal diagnosis for this family.
Key Laboratory for Experimental Teratology of the Ministry of Education, Department of Medical Genetics, Shandong University School of Medicine, Jinan, Republic of China.
Xue
X
Wang
Lin
L
Li
Jiangxia
J
Li
Jiaqian
J
Sun
Xueyuan
X
Heng
Yaoqin
Y
Gong
Qiji
Q
Liu
D000328:Adult; D044466:Asian People; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005190:Family; D005260:Female; D052138:Genes, Neoplasm; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D000099065:Exostosin 2; D000099058:Exostosin 1
D009363:Neoplasm Proteins; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2