Table 2.
Potential pathogenic mutations identified in Tunisian families.
| ID | Variant | Transcript | cDNA Position | Effect | Previous reports of the mutation | AF In EXAC (Global) | dbsnp | AF In gnomAD (Global) | SIFT | Provean | Clinvar |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | CIB2-Arg104Ter | NM_006383 | c.310C > T | Stop_gained | Novel | 8.244e-06 | rs1054728914 | 3.98e-6 | D | – | NR |
| P2 | ESRRB-Tyr295Cys | NM_004452 | c.884A > G | Non_synonymous | Novel | 2.537e-05 | rs780275423 | 9.02e-6 | T | De | NR |
| P3 | WHRN-Gly808AspfsX11 | NM_001083885 | c.2423delG | Frame_shift Premature stop codon | Tunisia [17] | – | – | – | – | – | NR |
| P4 | OTOF-Glu57Ter | NM_194322 | c.169G > T | Stop_gained | Saudi Arabia [18], [20] Libya [21] | – | rs397515591 | 4e-6 | – | – | P |
| P5 | MYO15A-Phe2089Leu | NM_016239.3 | c.6265 T > C | Non_synonymous | Novel | – | – | – | D | De | NR |
| P6 | SLC22A4-Cys113Tyr | NM_003059.2 | c.338G > A | Non_synonymous | Tunisia [32] | 0.00005 | rs768484124 | 0.000121 | D | De | NR |
| P7 | PNPT1-Glu475Gly | NM_033109.5 | c.1424A > G | Non_synonymous | Morocco [20] | – | rs397514599 | – | D | De | P |
| P8 | OTOA-Val603Phe | NM_144672.3 | c.1807G > T | Non_synonymous | Algeria [19] | 4.947e-05 | rs775686301 | 3.98e-6 | D | N | VUS |
| P9 | USH1C-Gln122Ter | NM_001297764 | c.360C > T | Stop_gained | Novel | – | – | – | – | – | NR |
| P10 | MYO7A-Tyr560Cys | NM_000260.4 | c.1679A > G | Non_synonymous | Novel | – | – | – | D | De | NR |
| P11 | MYO7A - SS | NM_000260.4 | c.470 + 1G > A | Splice donor variant | Tunisia [30], [9], [23] Algeria [22] Saudi Arabia [52] | – | rs797044510 | 6.37e-5 | – | – | P |
| c.2283-1G > T | Splice acceptor variant | Algeria [29], Morocco [28], France [27] Tunisia [24] | – | rs397516295 | – | – | – | P |
D: Damaging, T: Tolerated, De: Deleterious, N: Neutral.
NR: Not Reported, P: Pathogenic, VUS: Variant with Uncertain significance.
AF: Allele frequency.
*Novel mutations globally.