Table 1 Summary of genetic and clinical findings in probands with biallelic COL9A3 variants
p.(Pro36Argfs*49) Family 1 | p.(Arg402*) Family 2, Patient1 | p.(Arg402*) Family 2, Patient 2 | p.(Leu119Serfs*10) Family 3, Patient 1 | p.(Leu119Serfs*10) Family3, Patient 2 | p.(Gln393Cysfs*25) Faletra et al. [15] Patient 1 | |
|---|---|---|---|---|---|---|
Ethnicity | Iranian | Iranian | Iranian | Iranian | Iranian | Moroccan |
Consanguinity | First cousin | First cousin | First cousin | First cousin | First cousin | First cousin |
Sex | Female | Male | Male | Male | Female | Female |
Age in years | 28 | 65 | 57 | 11 years, 8 months | 3 years,1 month | 4 |
Birth | Uncomplicated (normal delivery) | Uncomplicated (normal delivery) | Uncomplicated (normal delivery) | Uncomplicated | Uncomplicated | NA |
Measurements | ||||||
OFC at last examination | 55 cm (+ 0.62 SD) | 56 cm (+ 0.62 SD) | 57 cm (+ 1.32 SD) | 53 cm (− 0.53 SD) | 48 cm (+ 0.39 SD) | NA |
Weight at last evaluation | 64 kg (+ 0.41 SD) | 68 kg (− 0.16 SD) | 66 kg (− 0.39 SD) | 32 kg (− 1.43 SD) | 12 kg (− 0.05 SD) | 16 kg |
Height at last examination | 157 cm (− 0.8 SD) | 166 cm (− 1.4 SD) | 163 cm (− 1.8 SD) | 137 cm (0.9 SD) | 84 cm (− 0.6 SD) | 107 cm |
Myopia | Moderate-to-high | High | High | High | High | Moderate-to-high |
Vitreoretinal degeneration | No | Yes | Yes | No | No | No |
Cataract | No | Yes | Yes | No | No | No |
Retinal detachment | No | Yes | Yes | No | No | No |
Auditory system | ||||||
Hearing loss | Yes | Yes | Yes | Yes | Yes | Yes |
Age at onset | NA | NA | NA | Early onset | Early onset | Early onset |
Type | Sensorineural | Sensorineural | Sensorineural | Sensorineural | Sensorineural | Sensorineural |
Degree of hearing loss | Severe | Profound | Profound | Moderate-to-severe | Moderate-to-severe | Moderate-to-severe |
Progressive/stable | Progressive | Progressive | Progressive | Progressive | Progressive | Progressive |
Joints | ||||||
Short stature | No | No | No | No | No | No |
Spondyloepiphyseal dysplasia | No | No | No | Yes | Yes | No |
Epiphyseal dysplasia | No | No | No | Yes | Yes | Yes |
Craniofacial structures | ||||||
Midface hypoplasia | No | No | No | No | Yes | Yes |
Cleft palate | No | No | No | No | No | No |
p.(Gln393Cysfs*25) Faletra et al. [15] Patient 2 | p.(Gln393Cysfs*25) Faletra et al. [15] Patient 3 | p.(Pro218Alafs*49) Hanson-Kahn et al. [16] | p.(Arg471Ter) Nixon et al. [13] Patient 1 | p.(Arg471Ter) Nixon et al. [13] Patient 2 | p.(Arg90Ter) and p.(Arg577Ter) Markova et al. [19] | |
|---|---|---|---|---|---|---|
Ethnicity | Moroccan | Moroccan | Indian | NA | NA | Russian |
Consanguinity | First cousin | First cousin | Third cousin | NA | NA | No |
Sex | Male | Male | NA | NA | NA | Male |
Age in years | 11 | 16 | 12 | 18 | 20 | |
Birth | NA | NA | Uncomplicated (Caesarean section) | NA | NA | At term |
Measurements | ||||||
OFC at last examination | NA | NA | NA | NA | NA | NA |
Weight at last evaluation | 38 kg | 60 kg | NA | NA | NA | 13 kg (50th %ile) |
Height at last examination | 144 cm | 170 cm | NA | NA | NA | 88 cm (25–50th %ile) |
Myopia | Moderate-to-high | Moderate-to-high | High | High | High | High |
Vitreoretinal degeneration | No | No | No | No | No | Yes |
Cataract | No | No | No | No | No | No |
Retinal detachment | No | No | No | No | No | No |
Auditory system | ||||||
Hearing loss | Yes | Yes | Yes | Yes | Yes | Yes |
Age at onset | NA | NA | Early onset | NA | NA | Yes |
Type | Sensorineural | Sensorineural | Sensorineural | Sensorineural | Sensorineural | Senorineural |
Degree of hearing loss | Moderate-to-severe | Moderate-to-severe | Moderate-to-severe | Severe | Severe | Severe |
Progressive/stable | Progressive | Progressive | Stable | Progressive | Progressive | NA |
Joints | ||||||
Short stature | No | No | No | No | No | No |
Spondyloepiphyseal dysplasia | No | No | No | No | No | Yes |
Epiphyseal dysplasia | Yes | Yes | Yes | NA | NA | Yes |
Craniofacial structures | ||||||
Midface hypoplasia | Yes | Yes | Yes | No | No | Yes |
Cleft palate | No | No | No | No | No | No |