Research Article

A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss

Table 1

Variants of POU4F3 related to DFNA 15.

DescriptionExonAmino acid changeType of variantEthnicityReference

c.884del82
Ile295Thrfs5FrameshiftJewishVahava et al. (1998) [14]
c.668T>C2Leu223ProMissenseDutchCollin et al. (2008) [10]
c.865C>T2Leu289PheMissenseDutchCollin et al. (2008) [10]
c.662del142Gly221Glufs77FrameshiftKoreanLee et al. (2010) [13]
c.694G>A2Glu232LysMissenseKoreanBaek et al. (2012) [9]
c.977G>A2Arg326LysMissenseKoreanKim et al. (2013) [12]
c.603_604delGG2Val203Aspfs11FrameshiftChineseYang et al. (2013) [16]
Deletion of entire gene2ā€‰DeletionBrazilianFreitas et al. (2014) [11]
c.491C>G2Pro164ArgMissenseChineseWei et al. (2014) [15]
c.337C>T2Gln113NonsenseChineseThis study