[Gene diagnosis for a child with tuberous sclerosis].

OBJECTIVE

To identify the pathogenic mutation in a family affected with tuberous sclerosis.

METHODS

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.

RESULTS

A heterozygous c.4493G>C missense mutation was identified in the proband. The same mutation was however not found in the parents.

CONCLUSION

The missense mutation c.4493G>C probably underlie the tuberous sclerosis complex seen in the child.