Table 2. Summary of mutant alleles identified in patients with nonsyndromic sensorineural hearing loss (SNHL).
| Gene | Nucleotide change | Amino acid change | Pathogenic type | Heterozygous | Homozygous | Mutant allele frequency | Mutant frequency |
|---|---|---|---|---|---|---|---|
| GJB2 | c.35delG | Frameshift | R | 0 | 1 | 0.26% | 0.26% |
| c.139G>T | p.Glu47Term | R | 1 | 0 | 0.13% | 0.26% | |
| c.235delC | Frameshift | R | 33 | 39 | 14.53% | 18.85% | |
| c.299_300delAT | Frameshift | R | 14 | 3 | 2.62% | 4.45% | |
| c.368C>A | p.Thr123Asn | R | 5 | 0 | 0.65% | 1.31% | |
| c.427C>T | p.Arg143Trp | R | 0 | 4 | 1.05% | 1.05% | |
| c.571T>C | p.Phe191Leu | R | 5 | 0 | 0.65% | 1.31% | |
| c.608T>C | p.Ile203Thr | R | 32 | 1 | 4.45% | 8.64% | |
| SLC26A4 | c.269C>T | p.Ser90Leu | R | 1 | 0 | 0.13% | 0.26% |
| c.589G>A | p.Gly197Arg | E | 2 | 0 | 0.26% | 0.52% | |
| c.754T>C | p.Ser252Pro | R | 4 | 0 | 0.52% | 1.05% | |
| c.IVS7_2A>G | Aberrant splicing | P/E/R | 34 | 13 | 7.85% | 12.30% | |
| c.1174A>T | p.Asn392Tyr | R | 3 | 0 | 0.39% | 0.79% | |
| c.1246A>C | p.Thr416Pro | P | 1 | 0 | 0.13% | 0.26% | |
| c.IVS10_12T>A | Aberrant splicing | E/R | 6 | 0 | 0.79% | 1.57% | |
| c.1343C>A | p.Ser448Term | R | 1 | 0 | 0.13% | 0.26% | |
| c.1489G>A | p.Gly497Ser | R | 2 | 0 | 0.26% | 0.52% | |
| c.IVS14+1G>A | Aberrant splicing | P | 1 | 0 | 0.13% | 0.26% | |
| c.1975G>C | p.Val659Leu | R | 4 | 0 | 0.52% | 1.05% | |
| c.2168A>G | p.His723Arg | P/E/R | 12 | 0 | 1.57% | 3.14% | |
| CDH23 | c.2968G>A | p.Asp990Asn | R | 19 | 0 | 2.49% | 4.97% |
| c.6604G>A | p.Asp2202Asn | R | 3 | 0 | 0.39% | 0.79% | |
| c.6823G>A | p.Arg2608His | R | 25 | 0 | 3.27% | 6.54% | |
| c.8866C>T | p.Arg2956Cys | R | 5 | 0 | 0.65% | 1.31% | |
| MYO15A | c.3685C>T | p.Gln1229Term | R | 13 | 0 | 1.70% | 3.40% |
| c.4351G>A | p.Asp1451Asn | R | 1 | 0 | 0.13% | 0.26% | |
| c.4669A>G | p.Lys1557Glu | R | 2 | 0 | 0.26% | 0.52% | |
| c.5189T>C | p.Leu1730Pro | R | 1 | 0 | 0.13% | 0.26% | |
| c.6337A>T | p.Ile2113Phe | R | 1 | 0 | 0.13% | 0.26% | |
| c.9478C>T | p.Leu3160Phe | R | 2 | 0 | 0.26% | 0.52% | |
| DFNB59 | c.499C>T | p.Arg167Term | R | 16 | 0 | 2.09% | 4.19% |
| 12rsRNA | c.1555A>G | —— | R | 16 | 0 | 2.09% | 4.19% |
| PCDH15 | c.400C>G | p.Arg134Gly | R | 13 | 0 | 1.70% | 3.40% |
| c.785G>A | p.Gly262Asp | R | 1 | 0 | 0.13% | 0.26% | |
| OTOF | c.1273C>T | p.Arg425Term | R | 1 | 0 | 0.13% | 0.26% |
| c.IVS28_2A>C | Aberrant splicing | R | 4 | 0 | 0.52% | 1.05% | |
| c.IVS39+1G>C | Aberrant splicing | R | 2 | 0 | 0.26% | 0.52% | |
| c.5197G>A | p.Glu1733Lys | R | 2 | 0 | 0.26% | 0.52% | |
| TRIOBP | c.3055G>A | p.Gly1019Arg | R | 7 | 0 | 0.92% | 1.83% |
| TMC1 | c.1334G>A | p.ArgRG445His | R | 4 | 0 | 0.52% | 1.05% |
| c.IVS21+5G>A | Aberrant splicing | R | 2 | 0 | 0.26% | 0.52% | |
| MYO1A | c.277C>T | p.Arg93Term | R | 1 | 0 | 0.13% | 0.26% |
| c.2390C>T | p.Ser797Phe | R | 1 | 0 | 0.13% | 0.26% | |
| c.916G>A | p.Val306Met | R | 3 | 0 | 0.39% | 0.79% | |
| KCNQ4 | c.546C>G | p.Phe182Leu | D | 4 | 0 | 0.52% | 1.05% |
| MYH14 | c.1126G>T | p.Gly376Cys | R | 3 | 0 | 0.39% | 0.79% |
| MYO3A | c.IVS8_2A>G | Aberrant splicing | R | 3 | 0 | 0.39% | 0.79% |
| MYH9 | c.2114G>A | p.Arg705His | D | 2 | 0 | 0.26% | 0.52% |
| TECTA | c.249C>T | p.Thr83Met | D | 2 | 0 | 0.26% | 0.52% |
| EYA4 | c.IVS14_12T>A | Aberrant splicing | R | 2 | 0 | 0.26% | 0.52% |
| MYO6 | c.737A>G | p.His246Arg | R | 1 | 0 | 0.13% | 0.26% |
| MYO7A | c.652G>A | p.Asp218Asn | D | 1 | 0 | 0.13% | 0.26% |
| TMPRSS3 | c.646C>T | p.Arg216Cys | R | 1 | 0 | 0.13% | 0.26% |
D: autosomal dominant inheritance; R: autosomal recessive inheritance; P: Pendred syndrome; E: enlarged vestibular aqueduct syndrome.