Table 3.
Presumably pathogenic DNA variants
| Gene | Nucleotide change | Exon | Amino acid change | Protein domain | Frequency in USH alleles (×/108) |
Frequency in control alleles |
Patient origin & reference |
|---|---|---|---|---|---|---|---|
| MYO7A | |||||||
| 487G>C | 6 | G163R | Motor head | 1 | 0/306 | Algeria [27] | |
| 494C>T | 6 | T165M | Motor head | 1 | 0/306 | Great Britain, France [58] | |
| 803A>G | 8 | K268R | Motor head | 1 | 0/306 | This study | |
| 805_807delAAG | 8 | K269del | Motor head | 1 | 0/306 | Italy, France [63] | |
| 1370C>T | 13 | A457V | Motor head | 1 | 0/306 | Ireland, France [63] | |
| 3659C>T | 29 | P1220L | MyTH4 (1) | 1 | 0/666 | This study | |
| 3719G>A | 29 | R1240Q | MyTH4 (1) | 2 | 0/306 | Denmark, Great Britain/France [62] | |
| 5648G>A | 41 | R1883Q | MyTH4 (2) | 1 | 0/306 | USA [58] | |
| 5887_5889delTTC | 43 | F1963del | FERM (2) | 1 | Europe, USA [24] | ||
| 6657T>C | 48 | L2186P | FERM (2) | 1 | 0/666 | France [85] | |
| USH1C | |||||||
| 308G>A | 4 | R103H | PDZ1 | 1 | 0/306 | France [27] | |
| 1069C>T | 13 | R357W | Coiled-coil | 1 | 0/498 | This study | |
| CDH23 | |||||||
| 2263C>T | 20 | H755Y | cd7 | 1 | 0/306 | USA [56] | |
| 3178C>T | 26 | R1060W | cd10 | 1 | 0/626 | Europe [55] | |
| 3565C>T | 29 | R1189W | cd11 | 1 | 0/306 | This study | |
| 4136G>C | 33 | R1379P | cd13 | 1 | 0/306 | This study | |
| 7916A>G | 55 | D2639G | cd25 | 1 | 0/306 | This study | |
| 9127C>T | 62 | R3043W | adjacent to TM (extracellular) |
1 | 0/490 | This study | |
| PCDH15 | |||||||
| 3817C>A | 29 | R1273S | cd11 | 1 | 0/306 | This study | |
| USH1G | |||||||
| 46C>G | 1 | L16V | 1 | 0/666 | This study | ||
| USH2A | |||||||
| 653T>A | 4 | V218E | Nter laminin | 1 | 0/306 | Great Britain [86] | |
| 908G>A | 6 | R303H | Nter laminin | 1 | 0/306 | USA [87] | |
| 949C>A | 6 | R317R | Nter laminin | 1 | 0/306 | Netherlands [60] | |
| 1055C>T | 6 | T352I | Nter laminin | 1 | 0/306 | Norway [28] | |
| 1606T>C | 9 | C536R | 1st laminin EGF-like | 1 | 0/306 | Denmark [81] | |
| 1724G>A | 10 | C575Y | 2nd laminin EGF-like | 1 | 0/306 | This study | |
| 3902G>T | 18 | G1301V | 14th FnIII | 1 | 0/484 | This study | |
| 8254G>A | 42 | G2752R | 3rd laminin EGF-like | 1 | 0/306 | Japan [88] | |
| 9921T>G | 50 | C3307W | 18th-19th FnIII | 1 | 0/482 | This study | |
| 10712C>T | 54 | T3571M | 20th FnIII | 2 | 0/306 | Spain [89] | |
| 14426C>T | 66 | T4809I | 33rd FnIII | 1 | 0/306 | Canada [90] | |
| VLGR1 | |||||||
| 5830G>A | 28 | D1944N | 13th -14th β-Calx | 1 | 0/306 | This study | |
| 10196A>C | 49 | H3399P | 4th EAR | 1 | 0/306 | This study | |
| 14119G>T | 70 | D4707Y | 32nd β-Calx | 1 | 0/446 | This study | |
| 14654A>G | 71 | N4885S | 32nd -33rd β-Calx | 1 | 0/486 | This study | |
| 16377G>T | 77 | Q5459H | 35th β-Calx | 1 | 0/402 | This study | |
| WHRN | |||||||
| 33C>G | 1 | S11R | A/G/S rich region | 1 | 0/494 | This study | |
| 1135C>T | 4 | R379W | PDZ2 | 1 | 0/306 | This study | |
Novel mutations are in bold.