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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
  1. Novel mutations are in bold.