Table 2 Demographics and clinical phenotypes in our USH2A cohort.

From: Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients

Subject

Sex/age

Genotype

Zygosity

Group

Auditory Phenotype

Visual Phenotype

Onset

Hearing threshold (dB HL; Rt/Lt)

Speech Discrimination (%; Rt/Lt)

Configuration

Symmetry

Visual acuity (logMAR; OD/OS)

Cone ERG response

Visual field (Maximum isopter)

OCT (Junctional complex)

SH351

F/6

c.14911C > T:p.Arg4971*

Comp het

1

Congenitala

98/68

24/72

Flat (Rt), sloping (Lt)

No

 

Excluded

  

c.2209C > T:p.Arg737*

SH525

F/14

c.12708 T > A:p.Cys4236*

Homo

1

Prelingualb

61/61

76/72

Sloping

Yes

 

Excluded

  

SH503

M/4 M

c.14134-3169A > G

Comp het

1

Congenital

48/46

NA

Flat

Yes

 

Excluded

  

c.14835del:p.Val4946Trpfs*4

SH677-1

F/12

c.8559-2A > G:p.?

Comp het

1

Prelingual

61/62

68/68

Sloping

Yes

 

Excluded

  

c.10593del:p.Ile3532Phefs*18

SH413

F/57

c.251G > A:p.Cys84Tyr

Comp het

2

Postlingualc (since 30’s )

77/91

52/48

Sloping

Yes

1.398/1.398

No

10

Absent

c.13112_13115del:p.Gln4371Argfs*19

SH478

M/5

c.8559-2A > G:p.?

Comp het

2

Congenital

60/58

NA

Sloping

Yes

 

Excluded

  

c.11156G > A;p.Arg2719His

SH490

M/5 M

c.2802 T > G:p.Cys934Trp

Comp het

2

Congenital

46/37

NA

Flat

Yes

 

Excluded

  

c.4858C > T:p.Gln1620*

SH479

F/57

c.14835del:p.Val4946Trpfs*4

Comp het

2

NAd

17/17

100/100

Sloping

Yes

0.155/0

Yes

12

Present

c.13964 T > C:p.Leu4655Pro

SH485-1

M/7

c.10712C > T:p.Thr3571Met

Comp het

2

Congenital

50/46

80/80

Sloping

Yes

 

Excluded

  

c.7120 + 1475A > G

SH485-2

F/5

c.10712C > T:p.Thr3571Met

Comp het

2

Congenital

46/43

80/80

Sloping

Yes

 

Excluded

  

c.7120 + 1475A > G

SH608

M/47

c.2802 T > G:p.Cys934Trp

Comp het

2

Postlingual (since 10’s )

58/58

84/84

Sloping

Yes

1/1.699

No

13

Absent

c.13112_13115del:p.Gln4371Argfs*19

SH677-2

M/33

c.8559-2A > G:p.?

Comp het

2

Postlingual (since 10’s )

55/55

86/88

Sloping

Yes

0.398/0.398

No

13

Absent

c.251G > A:p.Cys84Tyr

SH325

M/27

c.11156G > A:p.Arg3719Hisx

Comp het

3

Postlingual (since 20’s )

56/55

88/88

Sloping

Yes

0.222/0.523

No

10

Present

c.251G > A:p.Cys84Tyr

SH767

M/34

c.2802 T > G:p.Cys934Trp

Homo

3

NA

7/7

100/100

Flat

Yes

2/2

No

4

Absent

SH707

M/39

c.4372C > T:p.Arg1578Cys

Comp het

3

NA

7/6

100/100

Flat

Yes

0.046/0.046

Yes

80

Present

c.2802 T > G:p.Cys934Trp

SH637

F/64

c.11156G > A:p.Arg3719His

Comp het

3

Postlingual (since 30’s )

51/47

88/88

Sloping

Yes

0/0.046

Yes

53

Present

c.10724G > T:p.Cys3575Phe

  1. a: congenital onset, cases identified as refer in newborn hearing screening.
  2. b: prelingual onset, cases in which hearing aids were worn before school age, that is, before the age of 7.
  3. c: postlinigual onset, cases with subjective hearing loss onset.
  4. d: NA, cases not documented for hearing loss on the audiogram.
  5. Rt: right; Lt: left; comp het: compound heterozygote; homo: homozygote.
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