Table 1 Summary of the characteristics of SEDC* patients with hearing loss caused by COL2A1 variations
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 |