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Table 2 Variants analysis of the 18 HL patients in this study

From: Variant analysis of 92 Chinese Han families with hearing loss

Patient ID

Sex

Age

Age of diagnoses

Gene

Inheritance

NM Transcrip

Nucleotide change

Amino acid change

Variant type

gnomAD allele frequency

Reported or not

Disease

Pedigree

12471

M

5.5Y

2.5y

POU3F4

XLD

NM_000307

c.881A>G

p.E294G

Missense

Novel

X-linked deafness-2

Nuclear family

12480

F

4Y

Birth

USH2A

AR

NM_206933

c.8167C>T

p.R2723X

Nonsense

[15]

Usher syndrome 2A

Sporadic case

USH2A

AR

NM_206933

c.99_100insT

p.R34fs

Frameshift

0.00003

[16]

12513

F

6Y

5Y

OTOA

AR

NM_144672

c.774A>C

p.L258F

Missense

Novel

Autosomal recessive deafness-22

Nuclear family

OTOA

AR

NM_144672

c.1764delC

p.F588fs

Frameshift

0.000012

[17]

12601

F

33Y

33Y

GPR98

AR

NM_032119

c.12640C>T

p.Q4214X

Nonsense

Novel

Usher syndrome 2C

Sporadic case

GPR98

AR

NM_032119

c.14404C>T

p.R4802X

Nonsense

[18]

12606

M

8Y

8Y

GJB6

AD

NM_001110219

c.228delC

p.W77Gfs

Frameshift

0.00000725

Novel

Autosomal dominant deafness-3B

Nuclear family

12622

F

5Y

1Y

CDH23

AR

NM_022124

c.805C>T

p.R269W

Missense

0.000007

Novel

Autosomal recessive deafness-12

Nuclear family

CDH23

AR

NM_022124

c.5994delG

p.V1998fs

Frameshift

Novel

12712

F

28Y

25Y

TRIOBP

AR

NM_001039141

c.1960C>T

p.R654X

Nonsense

0.000007

Novel

Autosomal recessive deafness-28

Sporadic case

TRIOBP

AR

NM_001039141

c.5968delT

p.F1990fs

Frameshift

Novel

12751

F

10Y

1Y

SLC26A4

AR

NM_000441

c.589G>A

p.G197R

Missense

0.000004

[19, 19]

Pendred syndrome

Nuclear family

SLC26A4

AR

NM_000441

c.1238A>G

p.Q413R

Missense

0.000007

[20, 20]

12761

M

3Y

6M

CDH23

AR

NM_022124

c.5957T>C

p.L1986P

Missense

Novel

Autosomal recessive deafness-12

Nuclear family

CDH23

AR

NM_022124

c.6830C>A

p.A2277D

Missense

Novel

12792

F

24Y

6Y

USH2A

AR

NM_206933

c.8559-2A>G

Splice

Splice site

[22]

Usher syndrome 2A

Sporadic case

USH2A

AR

NM_206933

c.3791delC

p.S1264fs

Frameshift

Novel

12802

F

5Y

Birth

MYO15A

AR

NM_016239

c.6611G>A

p.R2204H

Missense

Novel

Autosomal recessive deafness-3

Sporadic case

MYO15A

AR

NM_016239

c.10251_10253del

p.3417_3418del

nonframeshift

0.000007

[22, 22]

12812

F

27Y

6Y

LOXHD1

AR

NM_144612

c.2295G>A

p.W765X

Nonsense

Novel

Autosomal recessive deafness-77

Sporadic case

LOXHD1

AR

NM_144612

c.134A>C

p.Y45S

Missense

Novel

12834

M

31Y

31Y

TMC1

AR

NM_138691

c.236+1G>C

Splice

Splice site

[23]

Autosomal recessive deafness-7

Sporadic case

TMC1

AR

NM_138691

c.741+2T>C

Splice

Splice site

Novel

12852

M

4Y

1Y

LOXHD1

AR

NM_144612

c.6355delG

p.A2119fs

Frameshift

Novel

Autosomal recessive deafness-77

Nuclear family

LOXHD1

AR

NM_144612

c.5888delG

p.G1963fs

Frameshift

0.0000065

ClinVar

12918

M

54Y

54Y

TNC

AD

NM_002160

c.1641C>A

p.C547X

Nonsense

0.000004

Novel

Autosomal dominant deafness-56

Sporadic case

12929

F

3Y

1Y

TMC1

AR

NM_138691

c.100C>T

p.R34X

Nonsense

0.000004

[24, 24]

Autosomal recessive deafness-7

Nuclear family

TMC1

AR

NM_138691

c.1810C>T

p.R604X

Nonsense

0.00001

[26]

12932

M

11Y

10Y

STRC

AR

NM_153700

c.4778C>T

p.A1593V

Missense

0.000004

Novel

Autosomal recessive deafness-16

Nuclear family

STRC

AR

NM_153700

CNV

CNV

[27, 28]

12933

M

3Y

3Y

TMPRSS3

AR

NM_024022

c.916G>A

p.A306T

Missense

0.000145

[29, 30]

Autosomal recessive deafness-8

Nuclear family

TMPRSS3

AR

NM_024022

c.271C>T

p.R91X

Nonsense

0.000004

[27]

  1. M, male; F, female; Y, year’s old; M, month; –, not included in the gnomAD database