Mutations found in BBS1, BBS2, BBS4, and MKKS
| Patient | Gene | Exon | Nucleotide change | Predicted effect | Reference |
|---|---|---|---|---|---|
| 1 | BBS1 | 12 | 1169T>G | M390R | 9 |
| BBS1 | 15 | 1552T>C | L518P | 16 | |
| 2 | BBS1 | 10 | IVS10+1G>A | Splice site | |
| BBS1 | 12 | 1169T>G | M390R | 9 | |
| 3 | BBS1 | 12 | 1169T>G | M390R | 9 |
| BBS1 | 12 | 1169T>G | M390R | 9 | |
| 4 | BBS1 | 9 | IVS9+1G>A | Splice site | |
| BBS1 | 12 | 1169T>G | M390R | 9 | |
| 5 | BBS1 | 5 | 436C>T | R146X | 17 |
| BBS1 | 12 | 1169T>G | M390R | 9 | |
| 6 | BBS2 | 11 | 1237C>T | R413X | |
| BBS4 | 16 | 1508C>T | P503L | ||
| 7 | BBS2 | 16 | 1928G>A | R643H | |
| BBS4 | 3 | 147A>G | K46R | 16 | |
| 8 | MKKS | 3 | 541G>C | A181P | |
| MKKS | 3 | 541G>C | A181P | ||
| 9 | MKKS | 6 | 1474G>A | D492N |