Table 2 Clinical features of individuals with ATP6V1B2 variants.
From: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Individual/family | 1 (n = 3) | 2 (n = 3) | 3 (n = 2) | 4 (n = 1)a | 5 (n = 1)a | 6 (n = 1)a | 7 (n = 1) | 8 (n = 1) | 9 (n = 1) | 10 (n = 1) |
|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1B2 variant c.1516C>T | + | + | + | + | + | + | + | + | + | + |
DDOD | + | + | – | – | – | – | – | – | – | – |
DOORS | – | – | + | + | + | + | + | + | + | + |
Deafness | + | + | + | + | + | + | + | + | + | + |
Onychodystrophy | + | + | + | + | + | + | + | + | + | + |
Brachydactyly | + | + | + | + | + | + | – | + | + | + |
Bulbous swelling of terminal phalanges | + | + | + | – | – | – | – | – | – | – |
Finger-like thumb | + | + | – | – | – | – | + | – | – | + |
Triphalangeal thumb | – | – | + | + | + | + | – | – | + | – |
Dental anomalies | +b (2/3) | – | – | +b | +c | – | – | – | – | – |
DD/ID | – | – | – | +d | +e | +f | +d | +f | +e | +f |
Seizures | – | + (1/3) | + (1/2) | – | + | + | – | – | + | + |
