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Table 1 Genotypes of USH patients

From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Genes    MYO7A USH1C CDH23 PCDH15 USH1G USH2A VLGR1 WHRN USH3A
Patient   USH type          
U37   I [p.R666X] + [p.E1917X]         
U57   I [p.C1198X]+ [p.R1240Q]         
P0485   I [p.Q1798X] + [p.E1917X]         
U14 C I [p.R972X] + [p.R972X]         
U9 C I [p.K164X] + [p.K164X]         
U36   I [p.R2024X] + [p.G519D]   [p.R1060W]       
U20   I [p.R669X] + [p.R1883Q]         
P0505   I [p.Q1798X] + [p.A2009fsX32]         
S1556 C I [p.H133fsX7] + [p.H133fsX7]         
S1295 C I [p.Y1302fsX97] + [p.Y1302sX97]      [p.G1301V] [p.Q5459H]   
P0504   I [p.D75fsX31] + [p.R1240Q] [p.R357W]        
U45   I [p.D75fsX31] + [p.T165M]         
P0411 C I [c.2283-1G>T] + [c.2283-1G>T]       [p.D4707Y]   
P0070   I [p.G163R] + [p.A198T]         
P0052   I [c.1690+1G>A] + [p.F1963del]         
U3   I [p.L2186P]     [p.L16V] [p.C3307W]    
DID C I   [p.R80fsX69] + [p.R80fsX69] [p.R3043W]       
U47   I   [p.R80fsX69] + [p.R103H]        
P0469   I    [p.E2135fsX3] + [c.6050-9G>A]       
S1212   I    [p.R1379P] + [p.D2639G]       
U38   I     [p.R991X] + [p.R991X]      
S1530   I     [p.R1273S]      
P0257   I      [p.W38X]     
S1273   I      [p.D29fsX29] + [p.D29fsX29]     
U46   I          
U50   I          
S1823 C I          
P0486   II [p.A457V] +
[p.K269del]
        
U6   II       [p.E3562X] + [p.E767fsX21]    
U24   II [p.P1220L]      [p.S1307X] + [p.C536R]    
U48   II       [p.W3955X] + [p.R2509fsX19]    
P0483   II       [p.E1492X] + [p.T3571M]    
P0418   II [p.K268R]      [p.S5030X]    
U56 C II       [p.T2991fsX61] + [p.T2991fsX61]    
U42   II       [p.E767fsX21] + [p.Y4128fsX24]    
P0449   II       [p.E767fsX21] + [p.C575Y]    
P0493   II       [p.H308fsX16] + [p.T4809I]    
P0432   II    [p.R1189W]    [p.M1344fsX42]    
U51   II       [p.V218E] + [p.R317R]    
P0511   II       [p.T3571M] + [p.T352I]    
U49   II        [p.E4321X] + [p.Q753fsX8]   
P0473   II        [p.P522fsX8] + [p.M5890fsX10] [p.S11R]  
U58   II        [p.F112fsX29] + [p.H3399P]   
P0463   II        [p.E4186fsX17]   
U10   II          
U53   II         [p.P246fsX13] + [p.P246fsX13]  
U19 C II    [p.H755Y]       
P0426   II          
U21   III       [p.Y1730fsX6] + [c.10586-1G>C]    
U30   III       [p.E767fsX21] + [p.R303H]    
S1226   III       [p.G2752R] + [c.5776+1G>A]    
P0239   III        [p.N4885S]   
P0484   III        [p.D1944N]   
P0069   III         [p.R379W]  
  1. Novel mutations are in bold. C (2nd column) denotes consanguinity.