We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5.
Waardenburg syndrome; PAX3 gene; incomplete penetrance; sensorineural hearing impairment; telecanthus
