From: A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
Family | 1 | 2 | 3 | 4 | 5 | ||
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
Sex | Male | Male | Male | Male | Male | Female | Male |
Age at onset | 1.5 years | 2 years | 24 weeks (gestational age) | nd | nd | 3 years | 10 years |
Age at diagnosis (genetic confirmation) | 5 years | nd | 4 years | 24 years | 22 years | 7 years | 10 years |
Consanguinity | – | + | + | + | + | + | + |
Ethnicity | Chinese | Indian | nd | Indian | Indian | Indian | Indian |
Birth height (cm)/weight (kg) | 51 (+ 0.33SD)/4 (+ 1.6SD) | 49 (− 0.8SD)/3.1 (− 0.9SD) | 38.5 (− 4.5SD)/2.7 (− 1.5SD) | nd | nd | nd | nd |
Height (cm)/weight (kg) at last evaluative | 105.8 (− 1.29)/24 (+ 1.87) | 117.5 (− 4.8SD)/nd | 68 (− 4SD)/9.5 (− 4.5) | 97 (− 11)/nd | 104 (− 10)/nd | 127 (− 2)/20 (− 2.8) | 111 (− 2.5)/17.5 (− 2) |
Eyesight abnormality | – | + (–6.5/–7.5D) | + (–10D) | – | – | + (+ 2D) | + (+ 2.5D) |
Hearing imapairment | – | + | – | – | – | – | – |
Short limbs | – | + | + | + | + | – | – |
Brachydactyly | + | + | nd | + | + | – | – |
Motor delay | – | + | nd | + | nd | – | – |
Short neck | + | + | + | – | – | – | – |
Flat face | + | + | nd | – | – | + | + |
Irregular vertebral endplate | + | + | – | + | + | + | + |
Platyspondyly | + | + | + | + | + | + | + |
Lumbar lordosis | – | nd | nd | + | + | + | + |
Kyphosis | – | + | – | – | – | – | + |
Scoliosis | – | + | – | – | – | + | + |
Epiphyseal dysplasia | + | + | + | + | + | + | + |
Metaphyseal enlargement | + | + | + | + | + | + | + |
Joint pain/stiffness/laxity | + | nd | nd | + | + | + | + |
Waddling gait | – | + | nd | – | – | + | + |
Others | Pyloric stenosis, inguinal hernia, insulin resistance, Barrel shaped thorax | Pierre Robin sequence features (cleft palate, bifid uvula, retrognathia, glossoptosis) | Bilateral knee joint dislocation | ||||
Identified variant | c.3662C > T (p.Ser1221Phe) | c.1309C > T p. (Arg437Trp) | c.1373C > T p. (Pro458Leu) | c.4135C > T p. (Arg1379Cys) | c.4135C > T p. (Arg1379Cys) | c.3190C > T p. (Arg1133Cys) | c.3190C > T p. (Arg1133Cys) |
Exon | 51 | 21 | 22 | 53 | 53 | 47 | 47 |
Domain | C‐terminal | Triple helical domain | Triple helical domain | C‐terminal | C‐terminal | Triple helical domain | Triple helical domain |
Reference | This study | Tham, E., et al | Barat-Houari, M., et al | Girisha, K. M. et al |