Gene diagnosis for a child with tuberous sclerosis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the pathogenic mutation in a family affected with tuberous sclerosis.</p><p><b>METHODS</b>For the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and bioinformatics tools.</p><p><b>RESULTS</b>A heterozygous c.4493G>C missense mutation was identified in the proband. The same mutation was however not found in the parents.</p><p><b>CONCLUSION</b>The missense mutation c.4493G>C probably underlie the tuberous sclerosis complex seen in the child.</p>