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Table 2 Clinical characteristics of spondyloepiphyseal dysplasia congenita patients carried variation p.G504S in COL2A1

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

Family number II3 I2 II2 III1 Family 1 Family 2 Family 3 Family 4 Family 5 Family 6 Family 7
Country (Ethnicity) China (Li) China (Li) China (Li) China (Li) China (Han) China (Han) China (Han) Japan Japan Japan China (Han)
patients/family size 4/7 1/3 9/21 9/35 1/1 1/1 1/4 1/1
Generations 3 (Het) De novo 4 (Het) 4 (Het) Sporadic Sporadic De novo sporadic
Gender F F F M M F F M M F M
Age 21y 51y 28y 3y 13y 27 m 53y 24y 60y 2y 9y
Height (cm) 125 133 143 75 116.5 80.5 NA 137.2 151 72.6 NA
Weight (kg) 30 35 42 8.5 NA NA NA NA NA 10.6 NA
Intelligence NA NA NA NA NA NA
Bone or joint pain + + + + NA NA NA NA NA
Waddling gait + + + + + NA NA NA NA
Short trunk + + + + + + + + + + +
Short neck + + + + + NA + NA NA NA NA
Midfacial dysplasia + + + + NA NA NA NA
Cleft palate NA
Thoracocyllosis + + NA
Scoliosis + + + + + NA
Kyphosis + + + + + NA
Platyspondyly + + NA NA + NA
Elbow deformity + NA NA NA NA NA NA
Wrist deformity + NA NA NA NA NA NA
Acetabulum abnormality + + + + + NA NA + NA
Femoral head disease + + + + + NA NA + NA
Sacrum cracked + NA NA NA
Myopia + + NA
Retinal detachment + NA NA
Hearing impairment + + NA
ossicles deformity + NA NA NA NA NA NA NA
Variations G504S G504S G504S G504S G504S G504S G504S G504S G504S G504S/G612A G504S
Literature This study This study This study This study Xu et al. 2020 LH et al. 2012 Xia et al. 2007 Nishimura et al. 2005 Nishimura et al. 2005 Kawano et al. 2015 Zhang et al. 2015
  1. *NA: not available, +: present, −: absent