Table 1.
Overview of all TMC1 mutations identified to date.
| Family name | origin | sequence variant | exon | type of sequence variant | inheritance pattern | reference | |
|---|---|---|---|---|---|---|---|
| cDNA level | Protein level | ||||||
| LMG128 | North-America | c.1714 G>A | p.D572N | 19 | Missense mutation | ad | (Kurima et al., 2002) |
| LMG248 | North-America | c.1714 G>C | p.D572H | 19 | Missense mutation | ad | (Kitajiri et al., 2007) |
| PKSR9, PKSN9, PKSN24, PKDF7, PKDF75, PKDF69, PKDF178, PKDF243, PKDF319, PKDF401, 3 Tunisian cases | Pakistan, Tunisia | c.100 C>T | p.R34X | 7 | Nonsense mutation | ar | (Kurima et al., 2002); (Kitajiri et al., 2007); (Tlili et al., 2008) |
| PKDF22 | Pakistan | c.IVS3_IVS5del27kb | / | 5 | Deletion | ar | (Kurima et al., 2002) |
| IN-DKB6 | India | c.295_296delA | / | 8 | Deletion | ar | (Kurima et al., 2002) |
| PKSR25, 4090 | Pakistan | c.IVS10-8T>A | / | Intron 10: −8 | Splice site mutation | ar | (Kurima et al., 2002); (Santos et al., 2005) |
| PKSR1a | Pakistan | c.IVS13+1G>A | / | Intron 13: +1 | Splice site mutation | ar | (Kurima et al., 2002) |
| TR56 | Turkey | c.776 A>G | p.Y259C | 13 | Missense mutation | ar | (Kalay et al., 2005) |
| TR47 | Turkey | c.821 C>T | p.P274L | 13 | Missense mutation | ar | (Kalay et al., 2005) |
| TR50 | Turkey | c.1083_1087delCAGAT | p.R362PfsX6 | 15 | Deletion | ar | (Kalay et al., 2005) |
| TR63 | Turkey | c.1334 G>A | p.R445H | 16 | Missense mutation | ar | (Kalay et al., 2005) |
| PKSR20a | Pakistan | c.1534 C>T | p.R512X | 17 | Nonsense mutation | ar | (Kurima et al., 2002) |
| IN-M17 | India | c.1960 A>G | p.M654V | 20 | Missense mutation | ar | (Kurima et al., 2002) |
| 4049 | Pakistan | c.830 A>G | p.Y277C | 13 | Missense mutation | ar | (Santos et al., 2005) |
| DFNB7/11 Sudanese family Tunisian family |
Sudan Tunisia |
c.1165 C>T | p.R389X | 15 | Nonsense mutation | ar | (Meyer et al., 2005) (Tlili et al., 2008) |
| DFNB7/11 Sudanese family | Sudan | c.IVS19+5G>A | / | Intron 19: +5 | Splice site mutation | ar | (Meyer et al., 2005) |
| PKDF431 | Pakistan | c.1541C>T | p.P514L | 17 | Missense mutation | ar | (Kitajiri et al., 2007) |
| PKDF329, PKDF511 | Pakistan | c.1543T>C | p.C515R | 17 | Missense mutation | ar | (Kitajiri et al., 2007) |
| PKDF274 | Pakistan | c.IVS5+1G>T | / | Intron 5: +1 | Splice site mutation | ar | (Kitajiri et al., 2007) |
| Tunisian family | Tunisia | c.1764G>A | p.W588X | 19 | Nonsense mutation | ar | (Tlili et al., 2008) |
ar=autosomal recessive; ad=autosomal dominant.