Table 1.
Previous papers describing the results of genetic screening using MPS
| Author (year) | Target genes | Mutated genes | Subjects | Ethnicity/nationality | Methods | Diagnostic rate | Most frequent | 2nd frequent | 3rd frequent | 4th frequent | 5th frequent |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Miyagawa et al. (2013) | 112 | 57 | 216 (120 early-onset/96 late-onset) | Japanese | MPS | NA (86.6% 187/216 variant detection rate) | GJB2 | SLC26A4 | USH2A | GPR98 | MYO15A |
| Yang et al. (2013) | 79 | 23 | 190 (early-onset/late-onset) | Chinese Hans | MPS | 51.6% (98/190) | GJB2 | SLC26A4 | m.1555A > G | MYO15A | USH2A, PCDH15, GPR98, TMC1 |
| Nishio and Usami (2015) | 63 | NA | 1120 (early-onset/late-onset) | Japanese | MPS | NA | GJB2 | CDH23 | SLC26A4 | MYO15A | COL11A2 |
| Sloan-Heggen et al. (2016) | 66/89 | 49 | 1119 (congenital/childhood/adulthood) | Various | MPS + CNV | 39.3% (440/1119) | GJB2 | STRC | SLC26A4 | TECTA | MYO15A |
| Sommen et al. (2016) | 79 | 16 | 131 (GBJ2 excluded/ARNSHL/prelingual moderate-profound) | Western European | MPS + CNV | 23.7% (31/131) | GJB2 (excluded) | TMC1, MYO7A, MYO15A | |||
| Yan et al. (2016) | 180 | 27 | 342 (GJB2 excluded) | Various (91 indigenous families from South Africa, 90 from Nigeria, 53 from the USA (South Florida), 38 from Tunisia, 23 from India, 21 from Iran, 19 from Turkey, and 7 from Guatemala) | MPS | 15% (53/342) | GJB2 (excluded) | MYO15A | SLC26A4 | USH2A | MYO7A |
| Bademci et al. (2016) | WES | 31 | 160 (GJB2 excluded/ARNSHL) | Mostly Turkey | WES | 56% (90/160) | GJB2 (excluded) | MYO15A | MYO7A | SLC26A4 | TMPRSS3 |
| Seco et al. (2017) | 120 | 27 | 200 (79 congenital/60 first-decade onset) | Netherland | MPS + CNV | 33.5% (67/200) | GJB2 | USH2A | MYO15A | STRC | CDH23 |
| Baux et al. (2017) | 74 | 19 | 207 (NSHL) | French | MPS + CNV | 48% (85/207) | GJB2 | STRC | MYO7A | MYO15A, TECTA, USH2A | |
| Morgan et al. (2018) | 96 | 20 | 103 (GJB2 excluded) | Italian | MPS + CNV | 31% (32/103) | GJB2 (excluded) | TECTA | ACTG1, TMPRSS3 | STRC | |
| Cabanillas et al. (2018) | 199 | 16 | 50 (GJB2/GJB6, OTOF and MT-RNR1 excluded) | Spanish | MPS + CNV | 42% (21/50) | GJB2 (excluded) | ACTG1 | USH2A | STRC | |
| Sun et al. (2019) | 127 | 24 | 58 | Chinese | MPS | 77.59% (45/58) | SLC26A4 | GJB2 | MYO15A | TRIOBP | MYO7A |
| Wu et al. (2019) | 80/213 | 27 | 280 (1291 of 5184 were excluded with GJB2, SLC26A4, m.1555A > G mutation) | Taiwanese | MPS | 30.7% (86/280) | GJB2 (excluded) | SLC26A4 (excluded) | OTOF | MYO15A | m.1555A > G (excluded) |
| Abu Rayyan et al. (2020) | 181 | 48 | 491 families | Palestinian | MPS | 52% (254/491), 87% (201/231 multiplex famlies), 47% (111/227 singleton families) | GJB2 | SLC26A4 | MYO15A | MYO7A | CDH23 |
| Yuan et al. (2020) | 129 | 24 | 463 (433 sporadic SNHL/30 deafness pedigree) | Chinese | MPS | 52.19% (226/433 sporadic SNHL), 56.67% (17/78 deafness pedigree) | GJB2 | SLC26A4 | m.1555A > G | MYO15A | POU3F4, USH2A, MYO1F, MYO7A, TMC1 |
| García-García et al. (2020) | 59 | 25 | 128 (118 families): 120 NS, 4USH, 2WS, 2BOR | Spanish | MPS + CNV | 40% (47/118) | GJB2 | MYO6 | TECTA | STRC | LOXHD1, OTOA, OTOF, COL11A2, WFS1 |
| Budde et al. (2020) | 12/94 | 23 | 61 consanguineous families | Egyptian | MPS | 79% (48/61) | MYO15A | SLC26A4 | GJB2 | MYO7A | ADGRV1, BSND, CDH23, TECTA, TRIOBP, LOXHD1 |
| Morgan et al. (2020) | WES | 27 | 125 (118 NSHL, 5 SHL) | Italian | WES + CNV | 50% (58/118) | GJB2 | STRC | USH2A | MYO7A | |
| Safka Brozkova et al. (2020) | 41/84/WES | 16 | 421 (early onset below the first few years) | Czech | CNV + MPS + WES | 12.8% (54/421) | GJB2 (excluded) | STRC | LOXHD1, MYO15A, TMPRSS3 | ||
| Brownstein et al. (2020) | 178/372 | 35 | 88 (muliplex family) | Jewish (Ashkenazi, Mizrahi, Sephardi) | MPS | 60% (53/88) | GJB2(Ashkenazi, Mizrahi), TMC1 (Sephardi) | MYO15A (Ashkenazi, Mizrahi), CDH23 (Sephardi) | |||
| This study (2021) | 63 | 51 | 10,047 [congenital (3877), 6–39 y.o.(2698), over 40 (1057)] | Japanese | MPS + CNV | 38.8% (3899/10047), congenital: 48.6% (1886/3877), 6–39 y.o.: 33.5% (905/2698), over 40: 18.1% (191/1057) | GJB2 | CDH23 | SLC26A4 | STRC | KCNQ4 |
WES whole exome sequencing, MPS massively parallel DNA sequencing, CNV copy number variation, AR autosomal recessive, NSHL non-syndromic hearing loss, SHL syndromic hearing loss, USH Usher syndrome, WS Waardenburg syndrome