Research Article
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
Table 1
Variants of POU4F3 related to DFNA 15.
| Description | Exon | Amino acid change | Type of variant | Ethnicity | Reference |
| c.884del8 | 2
| Ile295Thrfs5 | Frameshift | Jewish | Vahava et al. (1998) [14] | c.668T>C | 2 | Leu223Pro | Missense | Dutch | Collin et al. (2008) [10] | c.865C>T | 2 | Leu289Phe | Missense | Dutch | Collin et al. (2008) [10] | c.662del14 | 2 | Gly221Glufs77 | Frameshift | Korean | Lee et al. (2010) [13] | c.694G>A | 2 | Glu232Lys | Missense | Korean | Baek et al. (2012) [9] | c.977G>A | 2 | Arg326Lys | Missense | Korean | Kim et al. (2013) [12] | c.603_604delGG | 2 | Val203Aspfs11 | Frameshift | Chinese | Yang et al. (2013) [16] | Deletion of entire gene | 2 | ā | Deletion | Brazilian | Freitas et al. (2014) [11] | c.491C>G | 2 | Pro164Arg | Missense | Chinese | Wei et al. (2014) [15] | c.337C>T | 2 | Gln113 | Nonsense | Chinese | This study |
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