Research Article
Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families
Table 3
Pathogenic variants in the OTOF gene identified in this study.
| Proband | Nucleotide | Codon alteration | Type | Classification | ACMG evidence | References |
| 1-II-2, 1-II-3 | c.2688del | p.Lys896AsnfsTer104 | Hom | P | PVS1, PM2, PP3, PP4 | This study | 2-II-1 | c.4960G>A | p.Gly1654Ser | Het | P | PVS1, PM2, PP3, PP4 | [26] | c.1469C>G | p.Pro490Arg | Het | LP | PM2, PM3, PP3, PP4 | [23] | 3-II-4 | c.2977_2978del | p.Gln994ValfsTer7 | Het | P | PVS1, PM2, PP3, PP4 | [24] | c.2675A>G | p.Lys892Arg | Het | LP | PM2, PM3, PP3, PP4 | This study |
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Abbreviations: Hom, homozygote; Het, heterozygote; P, pathogenic; LP, likely pathogenic; PM, pathogenic moderate; PP, pathogenic supporting; PVS1, pathogenic strong.
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