Analysis of 12 patients with novel mutations of Dystrophin gene / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the characteristics, location, and amino acid changes of novel mutations of the Dystrophin gene.</p><p><b>METHODS</b>Twelve patients in whom no deletion or duplication of the Dystrophin gene was detected were analyzed with next-generation sequencing. Fifty healthy adult males were recruited as the controls.</p><p><b>RESULTS</b>All patients were detected with mutations of the Dystrophin gene, which included c.33C>G, c.583C>T, c.1333C>T, c.2593C>T, c.5731A>T, c.7288G>T, c.2803+1G>T, c.10034G>A, c.4289A>G, c.1905_906delAG, c.5017delC, c.5768_5771delAAGA, and c.6261_6262insA. No similar mutations were found among the controls.</p><p><b>CONCLUSION</b>Our data has enriched the mutation spectrum of the Dystrophin gene and may provide an important basis for genetic diagnosis.</p>