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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172