Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in gene, predicted to be disease causing by analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and functional prediction methods.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489998 | PMC |
http://dx.doi.org/10.1038/hgv.2017.27 | DOI Listing |
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