Table 1 Summary of clinical and genetic findings in individuals with CCN2 variants and kyphomelic dysplasia.
From: Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia
Family ID | Family 1 | Family 2 | |
|---|---|---|---|
Subject ID | P1 | P2 | P3 |
General characteristics | |||
 Age at last evaluation | 15 years | 11 years | 11 years |
 Gender | Male | Female | Female |
 Consanguinity | + | + | + |
Anthropometry | |||
 Height in cm (SD) | 153 cm (−2.03) | 118 cm (−3.6) | 76 cm (−5.5) at 3.5 years |
 Weight in kg (SD) | 41 kg (−1.91) | 25 kg (−2.18) | 14 kg (+0.06) at 3.5 years |
 Head circumference in cm (SD) | 52.5 cm (−1.61) | 50.5 cm (−1.71) | 49 cm (−2.94) |
Clinical findings | |||
 Short stature | + | + | + |
 Microcephaly | – | – | + |
 Bitemporal narrowing | + | + | + |
 Posteriorly placed ears | + | + | + |
 Deviated nasal septum | + | - | + |
 Micrognathia | + | + | + |
 Retrognathia | + | + | + |
 Microstomia | + | + | + |
 Cleft palate/ bifid uvula | + | + | + |
 Crowded teeth | + | + | + |
 Muscle wasting | + | + | + |
Skeletal findings | |||
 Scoliosis | + | + | – |
 Platyspondyly | + | + | + |
 Short and broad pelvis | + | + | – |
 Coxa vara | + | + | + |
 Epiphyseal dysplasia | + | + | + |
 Metaphyseal dysplasia | + | + | + |
 Elbow joint dislocation | + | + | + |
 Bent radius and ulna | + | + | + |
 Limited elbow extension/joint mobility | - | + | + |
 Femoral bending (kyphomelia) | + | + | + |
 Bowing of tibia and fibula | + | - | + |
 Mobile patella | + | – | + |
 Windswept deformity | + | – | – |
 Genu valgum | – | + | + |
 Limited knee flexion | + | + | + |
 Bilateral pes planus | + | – | – |
 Pes cavus | – | – | + |
 Broad great toe | + | + | + |
Molecular findings in CCN2 | |||
 Nucleotide change (NM_001901.4) | c.443G>A | c.443G>A | c.779_786del |
 Amino acid change (NP_001892.2) | p.(Cys148Tyr) | p.(Cys148Tyr) | p.(Pro260LeufsTer7) |
 Location | Exon 3 | Exon 3 | Exon 5 |
 Zygosity | Homozygous | Homozygous | Homozygous |
 Parental status | Heterozygous | Heterozygous | Heterozygous |
 Variant effect | Missense | Missense | Frameshift |
