|
References
|
Gender
|
Age
|
Origin
|
Family members
|
Deafness/SEDC
|
Nucleotide
|
Amino acid
|
Inherited pattern
|
Exon
|
Descriptions of hearing loss in the literature**
|
|---|
|
Zheng et al., (2020)
|
M
|
33
|
Chinese
|
3
|
1/2
|
c.1654G>A
|
G552R
|
AD
|
25
|
Mild
|
|
Sobetzko et al., (2000)
|
M
|
7
|
European
|
12
|
1/1
|
c.2917G>A
|
G973R
|
de novo
|
47
|
Moderate sensorineural Hearing deficit causing speech delay
|
|
Xu et al., (2014)
|
M
|
42
|
Chinese
|
8
|
1/5
|
c.1636G>A
|
G546S
|
AD
|
25
|
Conductive hearing loss
|
|
Zhang et al. (2011)
|
F
|
6
|
Chinese
|
22
|
1/2
|
c. 3455 G>A
|
G1152D
|
AD
|
49
|
Decreased hearing in both ears
|
|
Nishimura et al., 2005
|
M
|
6y8m
|
Japanese
|
Sporadic
|
Sporadic
|
c.2537G>A
|
G846E
|
Sporadic
|
39
|
Mild
|
|
Ideura et al. (2019)
|
NA
|
NA
|
Japanese
|
3
|
2/2
|
c.3198_3206del
|
p.1066_1069del
|
AD
|
46
|
Severe to profound
|
- *SEDC: Spondyloepiphyseal dysplasia congenita, MIM#183,900. **All the six studies descripted hearing impairment according to the patients’ chief complaint rather than undergoing audiological examinations. ***NA: not available
