BOR case | Type | Exon | Nucleotide change | Effect | Phenotype |
Nonsense | |||||
Subject 1 | Sporadic | 8 | 790 C→T | R265X | D, E, R, C |
Family 7 | Familial | 8 | 790 C→T | R265X | D, B, E |
Subject 2 | Sporadic | 8 | 732 C→A | Y244X | D, B, E, L |
Missense | |||||
Family 8 | Familial | 16 | 1680 A→C | X559Y | D, B, E, R, C, F |
Subject 11 | Sporadic | 16 | 1649 T→C | L549P | D, B, E, R, F |
Frameshifts | |||||
Family 31-150 | Familial | 13 | 1372 T→AGAGAC | 1bp del/6bp insertion | D, B, E |
Subject 6 | Sporadic | 5 | 387 ins T | 1bp insertion | D, B, R |
Splice site | |||||
Family 4 | Familial | 9 | 868-1 G→A | Loss of acceptor site | D, B, E, R |
Family 10 | Familial | 10 | 1041+1 G→T | Loss of donor site | D, B, E, R |
Subject 91-150 | Sporadic | 14 | 1498+2 T→G | Loss of donor site | D, B, E, R, C |
Subject 5 | Sporadic | 11 | 1042-13 23bp inv | Loss of acceptor site | D, E, R, C, H |
D = deafess, B = branchial defects, E = ear pits, R = renal anomalies, C = external ear abnormalities, F = facial asymmetry, L = lacrimal duct obstruction, H = sloping shoulders.
Nomenclature as previously described.14
↵1-150 Denotes previously published mutations.13