Table 2.
Common clinical features of BCS in patients with biallelic ZNF469 and PRDM5 mutations
| Feature | Observed in how many patients (and families) with ZNF469 mutations? | Observed in how many patients (and families) with PRDM5 mutations? |
|---|---|---|
| Ocular rupture |
16/19 (8 of 11 families) |
9/16 (5 of 8 families) |
| CCT <400 μm |
12/12 (7 families) |
9/9 (4 families) |
| Keratoconus/keratoglobus* |
8/12 (7 families) |
|
| Blue sclera |
19/19 (11 families) |
16/16 (8 families) |
| Deafness |
7/17 (6 of 11 families) |
9/16 (3 of 8 families) |
| Developmental dysplasia of the hip |
5/14 (4 of 10 families) |
4/16 (3 of 8 families) |
| Scoliosis |
3/18 (2 of 7 families) |
3/16 (3 of 8 families) |
| Small joint hypermobility | 12/19 (8 of 11 families) | 14/16 (7 of 8 families) |
Other features reported in small numbers of affected individuals or families include recurrent fractures, dental abnormalities, learning disability, hypertelorism and orofacial clefting. Such features could represent less common features of BCS or coincidental phenotypes (particularly in individuals from multiply consanguineous pedigrees).
* Whilst keratoconus or keratoglobus have not been noted in all affected individuals, this most frequently appears to be due to extremely early corneal rupture.