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Table 3 Pathogenic mutations identified by targeted NGS in probands with GJB2 mono-allelic mutations

From: Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Patient ID

Gene a

Type of variation

Nucleotide change

Amino acid change

Zygosity

Segregating with HLb

The GJB2 mutant allele

D592

GJB2

Frameshift indel

c.235delC

p. L79Cfs*3

het

ND

c.235delC

 

GJB3

Stop_gained

c.538C > T

p. R180*

het

  

C290

GJB2

Frameshift indel

c.235delC

p. L79Cfs*3

het

Yes

c.235delC

 

GJB3

Missense

c.547G > A

p. E183K

het

  

D1028

GJB2

Frameshift indel

c.235delC

p. L79Cfs*3

het

Yes

c.235delC

 

GJB6

Frameshift indel

c.228delG

p. W77Gfs*5

het

  

D908

STRC

Whole gene deletion

–

–

hom

Yes

c.235delC

 

STRC

Whole gene deletion

–

–

hom

  

D2002

STRC

Whole gene deletion

–

–

hom

Yes

c.235delC

 

STRC

Whole gene deletion

–

–

hom

  

D1857

STRC

Partial gene deletion

–

–

het

Yes

c.235delC

 

STRC

Stop_gained

c.3696G > A

p. W1232*

het

  

D1807

EYA1

Missense

c.1276G > A

p. G426S

het

De novo

c.235delC

D281

MITF

Stop_gained

c.877C > T

p. R293*

het

De novo

c.299_300delAT

D349

PCDH15

Missense

c.4133C > T

p. T1378I

compound het

Yes

c.235delC

 

PCDH15

Frameshift indel

c.1453delT

p. S485Rfs*2

compound het

  

D554

USH2A

Missense

c.10904C > A

p. T3635 N

compound het

Yes

c.235delC

 

USH2A

Missense

c.392A > G

p. N131S

compound het

  

D822

MYO15A

Missense

c.8158G > A

p. D2720N

compound het

Yes

c.235delC

 

MYO15A

In-frame del

c.10258_10260delTTC

p. F3420-

compound het

  

C649

CDH23

Missense

c.7630 T > G

p. L2544 V

compound het

Yes

c.235delC

 

CDH23

Missense

c.8257G > A

p. A2753T

compound het

  

D463

OTOF

Stop_gained

c.2122C > T

p. R708*

compound het

Yes

c.235delC

 

OTOF

Missense

c.1194 T > A

p. D398E

compound het

  

D289

SLC26A4

Missense

c.1174A > T

p. N392Y

compound het

Yes

c.235delC

  

Missense

c.1975G > C

p. V659 L

compound het

  

D237

SMPX

Missense

c.55A > G

p. N19D

hemi

ND

c.235delC

D211

TIMM8A

Frameshift indel

c.201delT

p. E68Sfs*11

hemi

ND

c.235delC

  1. Abbreviations: HL hearing loss, het heterozygous, hom homozygous, hemi hemizygous, ND not determined or not conclusive
  2. aThe reference sequence transcript IDs for each gene were GJB2 NM_004004.5, GJB3 NM_024009.2, GJB6 NM_006783.4, STRC NM_153700.2, EYA1 NM_000503.5, MITF NM_000248.3, PCDH15 NM_001142771.1, USH2A NM_206933.2, MYO15A NM_016239.3, CDH23 NM_022124.5, OTOF NM_194248.2, SLC26A4 NM_000441.1, SMPX NM_014332.2, TIMM8A NM_004085.3
  3. bSegregating with HL, determined on basis of segregation analysis in affected and/or unaffected family members
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172