Table 2.
Type of mutations in the families.
| Type | Family | Mutation site | Amino acid changes | Type of mutation | Novel mutation |
|---|---|---|---|---|---|
| MYO15A | J02 | 6892C>T | p.R2298X | Nonsense mutation | Novel |
| J07 | 9514C>T/7894G>T | p.Q3172X/p.V2632L | Nonsense mutation/missense mutation | Novel | |
| J16 | 9514C>T | p.Q3172X | Nonsense mutation | Novel | |
|
| |||||
| MYO7A | J03 | 1258A>T | p.K420X | Nonsense mutation | Novel |
|
| |||||
| TMC1 | J09 | 773G>A | p.G258D | Missense mutation | Novel |
| J11 | 1247T>G/1312G>A | p.L416R/p.A438T | Missense mutation | Reported previously | |
|
| |||||
| PCDH15 | J08 | 4658delT | p.M1553fs | Frameshift mutation | Novel |
| J13 | 4658delT | p.M1553fs | Frameshift mutation | Novel | |