Recently, one study addressed the molecular etiology investigation of WS in individuals mostly from southeastern Brazil by sequential Sanger sequencing of all coding exons of the 6 WS-associated genes, followed by CNV detection by multiplex ligation-dependent probe amplification (MLPA) of the PAX3, MITF, and SOX10 genes, and revealed novel pathogenic mutations [11]. This evidence concerns the gene SOX10 and Werner syndrome.