Case | Origin | Consanguinity | SNHL | Gene | Mutation | Protein |
---|---|---|---|---|---|---|
1.1 | Monastir | Yes | Yes | ATP6V1B1 | c.175-1G > C | p.? |
2.1 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
3.1 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
3.2 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
4.1 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
5.1 | Monastir | Yes | NA | ATP6V1B1 | c.1102G > A | p.Glu368Lys (p.E368K) |
5.2 | Monastir | Yes | Yes | ATP6V1B1 | c.1102G > A | p.Glu368Lys (p.E368K) |
6.1 | Monastir | No | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
7.1 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
7.2 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
8.1 | Monastir | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
9.1 | Kairouan | No | NA | ATP6V1B1 | c.175-1G > C | p.? |
10.1 | Kairouan | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
10.2 | Kairouan | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
11.1 | Kairouan | Yes | NA | ATP6V1B1 | c.175-1G > C | p.? |
12.1 | Gabes | No | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
13.1 | Gabes | Yes | Yes | ATP6V1B1 | c.1155dupC | p.Ile386Hisfs*56 (p.I386Hfs*56) |
14.1 | Mahdia | Yes | No | ATP6V0A4 | c.1221delG | p.Met408Cysfs*10 (p.M408Cfs*10) |
15.1 | Kairouan | Yes | NA | ATP6V0A4 | c.16C > T | p.Arg6* (p.R6*) |
16.1 | Kairouan | Yes | Yes | ATP6V0A4 | c.2035G > T | p.Asp679Tyr (p.D679Y) heterozygous |
16.2 | Kairouan | Yes | Yes | ATP6V0A4 | c.2035G > T | p.Asp679Tyr (p.D679Y) heterozygous |
17.1 | Kairouan | Yes | No | ATP6V0A4 | c.16C > T | p.Arg6* (p.R6*) |
18.1 | Monastir | Yes | No | ATP6V0A4 | c.16C > T | p.Arg6* (p.R6*) |
19.1 | Monastir | No | NA | ATP6V0A4 | c.1739 T > C | p.Met580Thr (p.M580T) heterozygous |
20.1 | Kairouan | Yes | No | ATP6V0A4 | c.16C > T | p.Arg6* (p.R6*) |