Table 1. LW/MW gene cluster composition and LW and MW exon 3 haplotypes in BCM and XLCD families analysed in this study.
| Index subjects | Exon 3 |
Clinical diagnosis | ||||
|---|---|---|---|---|---|---|
|
LW |
MW |
|||||
| Haplotype | p. | Haplotype | p. | nd | ||
| ZD379-19194 | 1 | LIAVA | 2 | MIAVAc.465C | 2 | BCM |
| BCM101-19818 | 1 | LIAVA | 3 | MIAVAc.465G | 2 | BCM |
| BCM51-12359 | 1 | LIAVA | 9 | MVVVAc.465G | 2 | XLCD |
| BCM160-23130 | 1 | LIAVA | 9 | MVVVAc.465G | 1 | BCM |
| ZD314-18057 | 1 | LIAVA | 10 | MVVVAc.465C | 1 | XLCD |
| BCM126-20616 | 4 | LVAVA | 4 | LVAVA | 1 | BCM |
| BCM133-20961 | 4 | LVAVA | 5 | LVAIA | 1 | BCM |
| ZD547-4544 | 4 | LVAVA | 12 | MVAVA | 1 | XLCD |
| BCM98-19713 | 8 | LIAIA | 7 | MVAIA | 1 | XLCD |
| BCM142-21958 | 6 | LVAISc | 5, 7 | LVAIA, MVAIA | 2 | BCM |
| BCM72-17075a | 1 | LIAVA | 1, 10 | LIAVA, MVVVAc.465C | 3 | BCM |
| BCM72-16874a | 11 | LIAVS | 1, 10 | LIAVA, MVVVAc.465C | 3 | Deutan/Macular Dystrophy |
| BCM73-16953b | 1 | LIAVA | – | – | 0 | BCM/XLCD |
| BCM93-19164 | 1 | LIAVA | – | – | 0 | XLCD |
| BCM66-16407 | 4 | LVAVA | – | – | 0 | BCM |
| BCM112-23518b | 4 | LVAVA | – | – | 0 | CRDe |
| BCM194-25474 | 4 | LVAVA | – | – | 0 | BCM |
aAffected subjects from the same family with distinct genotypes.
bSubjects harbouring single LW/MW hybrid genes.
cThis haplotype LVAIS includes an additional missense variant (c.556C > T/p.P186S; RefSeq: NM_020061.5) in exon 3 of the LW gene.
dNumber of MW gene copies deduced from qPCR.
eCone-Rod Dystrophy due to additionally impaired rod function (see Supplementary Table S1).