Table 4 Comparisons of the molecular diagnostic rate of reported NGS studies on hearing loss
No. of genes tested | CNVs analysis | Pre-genetic testing | Exclusion of positive cases of pre-testing | Ethnicity | No. of cases | Diagnostic rate | Pedigrees or cases with clear family history | Diagnostic rate | Study | |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 246 | No | GJB2 | Yes | Israeli Jewish and Palestinian Arab | 11 | 55% | Brownstein et al. [45] | ||
2 | 54 | Yes | No | Mixed | 100 | 42% | Shearer et al. [33] | |||
3 | 79 | No | GJB2, SLC26A4, and MT-RNR1 | Yes | Han Chinese | 93 | 20.47% | 32 | 43.75% | Yang et al. [43] |
4 | 80 | No | 20 common variants in GJB2, SLC26A4, and MT-RNR1 | Yes | Han Chinese | 12 | 33.33% | Wu et al. [42] | ||
5 | 84 | No | GJB2,OTOF, Mitochondrial 1555A>G or 3243A>G | Yes | Japanese | 15 | 46.67% | Mutai et al. [41] | ||
6 | 96 | No | No | Italy and Qatar | 12 | 33.33% | Vozzi et al. [44] | |||
7 | 131 | Yes | GJB2, SLC26A4, and MT-RNR1 | Yes | Chinese | 63 | 12.7% | Gu et al. [51] | ||
8 | 66 or 89 | Yes | No | Mixed | 686 | 38.9% | ||||
9 | 104 and 3 microRNA regions | No | Nine hotspot mutations of GJB2, SLC26A4, GJB3, MT-RNR1 | No | Chinese | 23 | 30.43% | Wei et al. [36] | ||
10 | 204 | Yes | Phenotype driven candidate gene testing and GJB2 | Yes | Korea | 53 | 20.75% | Park et al. [39] | ||
11 | 80 or 129 | Yes prescreen | GJB2 | No | Mainly European | 23 | 57% | Vona et al. [37] | ||
12 | 97 | No | GJB2, SLC26A4 and MT-RNR1 | Yes | Uyghur Chinese | 6 | 66.7% | Chen et al. [46] | ||
13 | 66 or 89 | Yes | No | Mixed | 604 | 37% | 376 | 41% (AR) 50% (AD) | Sloan-Heggen et al. [15] | |
14 | WES followed by targeted analysis of 120 genes | Yes | No | Dutch | 200 | 33.5% | Zazo Seco et al. [40] | |||
15 | Clinical exome sequencing of 4813 genes | No | No | Caucasian origin | 49 (including 32 from the nonsyndromic, non-GJB2 group and 17 from the syndromic group) | 21% (nonsyndromic, non-GJB2 group) 47% (syndromic group) | Likar et al. [38] | |||
16 | 119 + Mitochrondrial genome | No | GJB2, SLC26A4 and MT-RNR1 | No | Chinese | 433 | 52.19% | 30 | 56.67% | This study |
