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. Author manuscript; available in PMC: 2019 Jul 20.
Published in final edited form as: Gene. 2018 Apr 19;664:152–167. doi: 10.1016/j.gene.2018.04.048

Table 3.

Studies that identified variants in MYH9 as responsible for non-syndromic deafness. Each variant was identified in a single family.

Study Investigated cohort MYH9 gene variant MYH9 protein variant Phenotype inheritance Phenotypic features of deafness
Wu et al., 2013 12 patients with AD or AR SNHL c.3766G>A p.Glu1256Lys AD b-SNHL, profound, progressive, mostly in mid and high frequencies
Miyagawa et al., 2013 216 patients with b-SNHL c.2404C>T p.Arg802Trp AD b-SNHL, moderate, mostly in mid and high frequencies
c.3016_3017insGAG p.Thr1006fs AR b-SNHL, severe, all frequencies
c.4352C>T p.Ala1451Val AD nr
Neveling et al., 2013 36 patients with HL c.2507C>T p.Pro836Leu AD nr
Kim et al., 2016 75 patients with AD non-syndromic HL c.3909C>A p.Phe1303Leu AD b-SNHL, profound, progressive, mostly in mid and high frequencies
c.5188C>T p.Arg1730Cys AD b-SNHL, severe, mostly in high frequencies
c.5353C>T p.Arg1785Cys AD b-SNHL, severe, mostly in mid and high frequencies
Sloan-Heggen et al., 2016 1119 patients with HL c.4489C>T p.Arg1497Trp AD b-SNHL, mild to moderate

Abbreviations: HL, hearing loss; SNHL, sensorineural hearing loss; AD, autosomal dominant; AR, autosomal recessive; b-, bilateral; nr, not reported.