The EXT2 gene mutation in a family with hereditary multiple exostoses / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.</p><p><b>METHODS</b>Linkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.</p><p><b>RESULTS</b>The disease-causing gene of the family was linked to the EXT2 gene. A nonsense mutation of 536G>A in exon3 of the EXT2 gene was detected, which was co-segregated with the disease phenotype. The mutation resulted in a stop codon in codon 180. A nonpenetrant case was found in the family.</p><p><b>CONCLUSION</b>The mutation 536G>A in the EXT2 gene is the disease-causing mutation in the pedigree with hereditary multiple exostoses.</p>