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

From: Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

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
  1. *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