Table 3 Variants identified by genetic testing

From: An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis

  

Genetic testing

 
  

First-stage test

Second-stage test

Third-stage test

 

Patient ID

Inheritance mode

Invader assay

Sanger sequencing

TaqMan genotyping assay

Targeted exon sequencing using MPS

Genetic diagnosis

AG8952

Sporadic

GJB2 c.235delC

   

GJB2 compound heterozygous

  

GJB2 c.257C>G

    

AG8957

AR

GJB2 c.235delC

   

GJB2 compound heterozygous

  

GJB2 c.[134G>A; 408C>A]

    

AH6279

Sporadic

GJB2 c.235delC

   

GJB2 compound heterozygous

  

GJB2 c.[134G>A; 408C>A]

    

AH6286

AR

GJB2 c.235delC

   

GJB2 homozygous

  

GJB2 c.235delC

    

AH6287

Sporadic

GJB2 c.235delC

   

GJB2 homozygous

  

GJB2 c.235delC

    

AH690

AD

GJB2 c.235delC

GJB2 c.235delC

  

GJB2 compound heterozygous

  

–

GJB2 c.233C>T

   

AH691

Sporadic

GJB2 c.[134G>A; 408C>A]

GJB2 c.[134G>A; 408C>A]

  

GJB2 compound heterozygous

  

–

GJB2 c.605ins46

   

AG8954

Sporadic

SLC26A4 c.2168A>G

SLC26A4 c.2168A>G

  

SLC26A4 compound heterozygous

  

–

SLC26A4 c.1165G>A

   

AG8973

Sporadic

SLC26A4 c.2162C>T

SLC26A4 c.2162C>T

  

SLC26A4 compound heterozygous

  

–

SLC26A4 c.2147A>G

   

AG8975

AD

SLC26A4 c.1229C>T

SLC26A4 c.1229C>T

–

SLC26A4 c.1229C>T

SLC26A4 heterozygous

AH6291

Sporadic

GJB2 c.235delC

GJB2 c.235delC

–

–

GJB2 heterozygous

     

CDH23 c.6085C>T

CDH23 heterozygous

     

SLC26A4 c.1625C>G

SLC26A4 heterozygous

AG8964

AD

–

 

KCNQ4 c.211delC

 

KCNQ4 heterozygous

AG8967

AD

–

 

KCNQ4 c.211delC

 

KCNQ4 heterozygous

AG8972

AD

–

 

KCNQ4 c.211delC

 

KCNQ4 heterozygous

AH678

Sporadic

–

 

CDH23 c.719C>T

 

CDH23 compound heterozygous

  

–

 

CDH23 c.2866G>A

  

AG8959

Sporadic

–

 

CDH23 c.6085C>T

CDH23 c.6085C>T

CDH23 heterozygous

AH677

Sporadic

–

 

CDH23 c.4877A>C

–

CDH23 heterozygous

AG8974

Sporadic

–

 

OTOF c.1194T>A

OTOF c.1194T>A

OTOF heterozygous

AH6275

Sporadic

–

 

–

CDH23 c.6555G>A

CDH23 compound heterozygous

  

–

 

–

CDH23 c.1363G>A

 

AG8960

Sporadic

–

 

–

PTPRQ c.1261C>T

PTPRQ homozygous

  

–

 

–

PTPRQ c.1261C>T

 

AG8970

AR

–

 

–

MYO15A c.3756+1G>A

MYO15A compound heterozygous

  

–

 

–

MYO15A c.4660G>A

 

AH689

Sporadic

–

 

–

LOXHD1 c.G3076G>T

LOXHD1 compound heterozygous

  

–

 

–

LOXHD1 c.4375+1G>T

 

AH6283

Sporadic

–

 

–

USH2A c.57_58del

USH2A compound heterozygous

  

–

 

–

USH2A c.9079G>T

 

AH6293

AD

–

 

–

WFS1 c.2508G>T

WFS1 heterozygous

AH6295

Sporadic

–

 

–

SLC26A4 c.1489G>A

SLC26A4 compound heterozygous

     

SLC26A4 c.1707+5G>A

 

AH6299

AD

–

 

–

ACTG1 c.994C>T

ACTG1 heterozygous

AH6277

Sporadic

–

 

–

CDH23 c.4762C>T

CDH23 heterozygous

AH6284

Sporadic

–

 

–

CDH23 c.719C>T

CDH23 heterozygous

     

MYO7A c.652G>A

MYO7A heterozygous

AH688

Sporadic

–

 

–

TMPRSS3 c.778G>A

TMPRSS3 heterozygous

AG8971

AD

–

 

–

MYO15A c.6371G>A

MYO15A heterozygous

  1. Abbreviations: AD, autosomal dominant, AR, autosomal recessive.
  2. The detection rates of the first-stage and second-stage testing were 21% (11/52) and 16% (7/43), respectively. Third-stage testing identified 22 variants in 11 genes among 16 cases (41%).
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