Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant

Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant

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.

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Bibliographic Details
Main Authors: Pardono,Eliete, Mazzeu,Juliana F., Lezirovitz,Karina, Auricchio,Maria Teresa B.M., Iughetti,Paula, Nascimento,Rafaella M.P., Mingroni-Netto,Regina C., Otto,Paulo A.
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2006
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003
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