A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1

摘要: PURPOSE Screening of mutations in the paired box 3 (PAX3) gene three generations a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS WS1 was diagnosed 13-month-old girl according to WS Consortium criteria. Detailed history proband revealed eight affected members generations. Routine clinical and audiological examination ophthalmologic evaluation were performed on five healthy study family. Dystopia canthorum detected all patients; however, brilliant blue iris present patients who also had mild retinal hypopigmentation. Genomic DNA extracted from peripheral blood unaffected individuals as well 50 unrelated volunteers. All coding exons adjacent intronic regions PAX3 sequenced directly. RESULTS A novel missense heterozygous c.788T>G mutation identified patients. This nucleotide alteration not found or control subjects. The causes V263G amino-acid substitution homeodomain protein, which represents 45(th) residue helix 3. CONCLUSIONS We intrafamilial phenotypic heterogeneity.