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 |