Table 1. Mutation data for BCD patients.
| Ptnt | Allele 1 | Allele 2 | Refs | Pop | PP2 | P | Sift | Condel | |
|---|---|---|---|---|---|---|---|---|---|
| A. Patients with novel mutations in CYP4V2 | |||||||||
| 1 | DDL934 | c.71T>C, p.(Leu24Pro)a | Homozygous | U | B | Del | Dam | N | |
| 2 | 6295 | c.134A>C, p.(Gln45Pro)a | Homozygous | E | B | N | Dam | N | |
| 3 | 6296 | c.134A>C, p.(Gln45Pro)a | Homozygous | E | B | N | Dam | N | |
| 4 | W155 | c.810delT, p.(Glu271Asnfs*6)a | c.1091-2A>G, p.(Gly364_Val408del)b,c,d | 5 | C | ||||
| 5 | W172 | c.810delT, p.(Glu271Asnfs*6)a | c.1091-2A>G, p.(Gly364_Val408del)b,c,d | 5 | C | ||||
| 6 | W76 | c.810delT, p.(Glu271Asnfs*6)a | c.694C>T, p.(Arg232Ter)c,d | 37 | C | ||||
| 7 | W69 | c.810delT, p.(Glu271Asnfs*6)a | c.958C>T, p.(Arg320Ter)c,d | 30 | C | ||||
| 8 | 13805 | c.928G>T, p.(Glu310Ter)a,c | c.130T>A, p.(Trp44Arg)d | 5 | E | ||||
| 9 | 10938 | c.1178C>T, p.(Pro393Leu)a | Homozygous | U | PD | Del | Dam | Del | |
| 10 | DDL686 | c.1219G>T, p.(Glu407Ter)a,c | Homozygous | U | |||||
| 11 | 11240 | c.1355G>A, p.(Arg452His)a | c.802-8_810del17insGC, p.(Val268_Glu329del)d | 5 | K | Dam | Del | Dam | Del |
| 12 | 6298 | c. 1225+1G>A, p.(Gly364_V408del)a,b,c | Homozygous | A | |||||
| 13 | W180 | c.1442delT, p.(Ser482Argfs*4)a | c.802-8_810del17insGC, p.(Val268_Glu329del)d | 5 | C | ||||
| B. Patients with previously identified mutations in CYP4V2 | |||||||||
| 14 | 14335 | c.64C>G, p.(Leu22Val)e | Homozygous | 24 | E | ||||
| 15 | 13804 | c.64C>G, p.(Leu22Val)e | Homozygous | 19 | E | ||||
| 16 | 14331 | c.64C>G, p.(Leu22Val)e | Homozygous | 19 | E | ||||
| c.775A>C,p(Lys259Gln)e | Homozygous | 25 | |||||||
| 17 | DDL1056 | c.197T>G, p.(Met66Arg) | Homozygous | 38 | U | ||||
| 18 | 10939 | c.283G>A, p.(Gly95Arg) | c.1393A>G, p.(Arg465Gly) | 24, 37 | U | ||||
| 19 | 8229 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 20 | 8230 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 21 | 8231 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 22 | 11208 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 23 | 11209 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 24 | 11210 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 25 | 13806 | c.332T>C, p.(Ile111Thr) | Homozygous | 5 | E | ||||
| 26 | DDL323 | c.677T>A, p.(Met226Lys) | Homozygous | 38 | E | ||||
| 27 | W50-1 | c.694C>T, p.(Arg232Ter)c | c.1027T>G, p.(Tyr343Asp) | 37, 39 | C | ||||
| 28 | 6139 | c.694C>T, p.(Arg232Ter)c | c.1199G>A, p.(Arg400His) | 24, 37 | E | ||||
| 29 | 14332 | c.775A>C,p(Lys259Gln)e | Heterozygote | 25 | E | ||||
| 30 | 14333 | c.775A>C,p(Lys259Gln)e | Heterozygote | 25 | E | ||||
| 31 | 14334 | c.775A>C,p(Lys259Gln)e | Heterozygote | 25 | E | ||||
| 32 | 6090 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | Homozygous | 5 | K | ||||
| 33 | 13151 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | Homozygous | 5 | C | ||||
| 34 | DDL708 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | Homozygous | 5 | C | ||||
| 35 | DDL1080 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | Homozygous | 5 | C | ||||
| 36 | W145-1 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | Homozygous | 5 | C | ||||
| 37 | 11196 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.992A>C, p.(His331Pro) | 5 | K | ||||
| 38 | 11242 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.992A>C, p.(His331Pro) | 5 | K | ||||
| 39 | DDL591 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.1091-2A>G, p.(Gly364_Val408del)b,c | 5 | U | ||||
| 40 | DDL593 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.992A>C, p.(His331Pro) | 5 | C | ||||
| 41 | DDL933 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.992A>C, p.(His331Pro) | 5 | C | ||||
| 42 | F49-1 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.1091-2A>G, p.(Gly364_Val408del)b c | 5 | C | ||||
| 43 | W150-1 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.992A>C, p.(His331Pro) | 5 | C | ||||
| 44 | W46-1 | c.802-8_810del17insGC, p.(Val268_Glu329del)f | c.1199G>A, p.(Arg400His) | 5, 24 | C | ||||
| 45 | W20-1 | c.992A>C, p.(His331Pro) | Homozygous | 5 | C | ||||
| 46 | DDL495 | c.992A>C, p.(His331Pro) | Homozygous | 5 | U | ||||
| 47 | DDL940 | c.992A>C, p.(His331Pro) | c.1187C>T, p.(Pro396Leu) | 5, 28 | U | ||||
| 48 | W27-1 | c.992A>C, p.(His331Pro) | c.1091-2A>G, p.(Gly364_Val408del)b,c | 5 | C | ||||
| 49 | W9-1 | c.992A>C, p.(His331Pro) | c.1091-2A>G, p.(Gly364_Val408del)b,c | 5 | C | ||||
| 50 | W15-1 | c.1091-2A>G, p.(Gly364_Val408del)b,c | Homozygous | 5 | C | ||||
| 51 | DDL1076 | c.1168C>T, p.(Arg390Cys) | Homozygous | 33 | U | ||||
| 52 | DDL942 | c.1169G>A, p.(Arg390His) | Homozygous | 30 | U | ||||
| 53 | 13973 | c.1198C>T, p.(Arg400Cys) | Homozygous | 28 | E | ||||
| 54 | 6272 | c.1328G>A, p.(Arg443Gln) | Homozygous | 37 | E | ||||
| 55 | 6271 | c.1328G>A, p.(Arg443Gln) | Homozygous | 37 | E | ||||
| 56 | 11203 | c.1328G>A, p.(Arg443Gln) | c.1372G>A, p.(Val458Met) | 37, 40 | E | ||||
| 57 | 11204 | c.1328G>A, p.(Arg443Gln) | c.1372G>A, p.(Val458Met) | 37, 40 | E | ||||
| 58 | 6829 | c.1393A>G, p.(Arg465Gly) | Homozygous | 37 | E | ||||
Abbreviations: A, Arabic; C, Chinese; E, European; K, Korean; P, Provean; PP2, PolyPhen-2; U, unknown.
a
Novel mutation.
b
Skips exon 9 (predicted).
c
Subject to nonsense-mediated decay.
d
Previously reported.
e
Probably not pathogenic.
f
Skips exon 7 (verified experimentally).