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Table 1 Summary of clinical data

From: OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

Individual

Age (ys.)

Hearing loss

Age of onset (ys.)

Course

OSBPL2

II:1

36 (†)

no

  

no sample

II:2

69 (†)

not noted by any of the five children, but nasal pronunciation

?

?

no sample

II:5

93 (†)

no

  

wildtype

II:7

78 (†)

no

  

no sample

III:2

76

no

  

wildtype

III:4

71

unilateral (untreated otitis media)

  

wildtype

III:6

74 (†)

no

  

wildtype

III:7

71

yes

12

worse after birth of children, stress; CI around 50 ys.

p.Arg50Alafs*103

III:8

67

no

  

wildtype

III:9

61

yes

30

CI at 50 ys.

p.Arg50Alafs*103

III:10

64

only temporary, episodes of acute hearing loss

  

wildtype

IV:6

58

no

  

wildtype

IV:7

50

yes

10

CI at 36 ys.

p.Arg50Alafs*103

IV:8

50

no

  

wildtype

IV:9

49

yes

12

CI at 39 ys.

p.Arg50Alafs*103

IV:10

45

yes

22

hearing aids at 34 ys.

p.Arg50Alafs*103

IV:11

44

no

  

wildtype

IV:12

39

no data from investigations; hearing worse under stress

?

?

p.Arg50Alafs*103

IV:13

35

no; two healthy daughters

  

no sample

V:2

28

yes

15

worsening after birth of children; CI at 27 ys.

p.Arg50Alafs*103

V:3

26

yes

11

hearing aids at 12 ys.

p.Arg50Alafs*103

V:4

15

no

  

wildtype

V:5

16

no

  

wildtype

V:6

20

yes

10

hearing aids at 15 ys.

p.Arg50Alafs*103

V:7

17

no

  

wildtype

VI:1

3

no (normal OAEs at 3 ys.)

  

wildtype

VI:2

4 months

no