Table 2 Pathogenic DNA variants
From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
| Gene | Nucleotide change | Exon | Amino acid change |
Frequency in USH alleles (×/108) |
Frequency in control alleles |
Patient origin & reference |
|---|---|---|---|---|---|---|
| MYO7A | ||||||
| 223delG | 4 | D75fsX31 | 2 | Australia, Italy, France [78] | ||
| 397dupC | 5 | H133fsX7 | 2 | This study | ||
| 490A>T | 6 | K164X | 2 | This study | ||
| 592G>A | 6 | A198T + splice defect | 1 | 0/306 | Algeria [27] | |
| 1556G>A | 14 | G519D/splice defect | 1 | 0/306 | USA, France [63] | |
| 1690+1G>A | 14 | Splice defect | 1 | This study | ||
| 1996C>T | 17 | R666X | 1 | Great Britain, Denmark [62] | ||
| 2005C>T | 17 | R669X | 1 | USA [24] | ||
| 2283-1G>T | 20 | Splice defect | 2 | Algeria [27] | ||
| 2914C>T | 24 | R972X | 2 | Pakistan [79] | ||
| 3594C>A | 28 | C1198X | 1 | This study | ||
| 3904delT | 30 | Y1302fsX97 | 2 | This study | ||
| 5392C>T | 39 | Q1798X | 2 | Denmark, German, Great Britain/France [62] | ||
| 5749G>T | 42 | E1917X | 2 | unknown [80] | ||
| 6025delG | 44 | A2009fsX32 | 1 | Spain [63] | ||
| 6070C>T | 45 | R2024X | 1 | unknown [80] | ||
| USH1C | ||||||
| 238_239dupC | 3 | R80fsX69 | 3 | Pakistan, Europe, Guinea [4] | ||
| CDH23 | ||||||
| 6050-9G>A | 46 | Splice defect | 1 | Germany [54] | ||
| 6404_6405delAG | 47 | E2135fsX31 | 1 | This study | ||
| PCDH15 | ||||||
| 2971C>T | 22 | R991X | 2 | France [27] | ||
| USH1G | ||||||
| 84dupC | 1 | D29fsX29 | 2 | This study | ||
| 113G>A | 1 | W38X | 1 | USA [58] | ||
| USH2A | ||||||
| 920_923dupGCCA | 6 | H308fsX16 | 1 | Denmark [81] | ||
| 2299delG | 13 | E767fsX21 | 4 | Europe, USA, Africa, China [10] | ||
| 3920C>G | 18 | S1307X | 1 | France [82] | ||
| 4030_4037delATGGCTGG | 18 | M1344fsX42 | 1 | This study | ||
| 4474G>T | 21 | E1492X | 1 | Spain [83] | ||
| 5189_5199delATATGTTTCAT | 26 | Y1730fsX6 | 1 | This study | ||
| 5776+1G>A | 28 | Splice defect | 1 | Norway [28] | ||
| 7522delT | 40 | R2509fsX19 | 1 | This study | ||
| 8970_8971delCA | 45 | T2991fsX61 | 2 | This study | ||
| 10586-1G>C | 54 | Splice defect | 1 | This study | ||
| 10684G>T | 54 | E3562X | 1 | Denmark, Norway [28] | ||
| 11864G>A | 61 | W3955X | 1 | Netherlands [84] | ||
| 12381_12382delCT | 63 | Y4128fsX24 | 1 | This study | ||
| 15089C>A | 70 | S5030X | 1 | France [66] | ||
| VLGR1 | ||||||
| 333_334delTT | 3 | F112fsX29 | 1 | This study | ||
| 1563dupT | 9 | P522fsX8 | 1 | This study | ||
| 2258_2270delAAGTGCTGAAATC | 12 | Q753fsX8 | 1 | This study | ||
| 12552_12553delGG | 62 | E4186fsX17 | 1 | This study | ||
| 12961G>T | 64 | E4321X | 1 | This study | ||
| 17668_17669delAT | 82 | M5890fsX10 | 1 | This study | ||
| WHRN | ||||||
| 737delC | 2 | P246fsX13 | 2 | This study |
