Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses

Wen Chau Chen, Chih Hsien Chi, Chia Chang Chuang, I. Ming Jou

研究成果: Article同行評審

8 引文 斯高帕斯(Scopus)

摘要

Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autosomal dominant disorder characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported. Recently, the EXT1 and EXT2 genes were identified by positional cloning. Using polymerase chain reaction and direct sequencing, we analyzed the EXT1 and EXT2 genes in three familial cases and one sporadic case of HME in Taiwanese patients. We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+ 1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene). Mutation analysis in families with HME allows for genetic counseling and prenatal diagnosis.

原文English
頁(從 - 到)434-437
頁數4
期刊Journal of the Formosan Medical Association
105
發行號5
DOIs
出版狀態Published - 2006 5月

All Science Journal Classification (ASJC) codes

  • 一般醫學

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