Table 5.
Distribution of BBS genotypes of the 33 patients included in this case series
| Patient | Sex | Age | Mutations | Type of Mutation |
|---|---|---|---|---|
| 1 | M | 34 | BBS1: M390R/M390R | MS |
| 2 | M | 21 | BBS1: M390R/M390R | MS |
| 3 | M | 18 | BBS1: M390R/M390R | MS |
| 4 | M | 35 | BBS1: M390R/M390R | MS |
| 5 | M | 38 | BBS1: M390R/M390R | MS |
| 6 | F | 53 | BBS1: M390R/M390R | MS |
| 7 | M | 17 | BBS1: M390R/M390R | MS |
| 8 | F | 28 | BBS1: M390R/E384X | HC |
| 9 | F | 21 | BBS1: M390R/E549X | HC |
| 10 | M | 21 | BBS1: M390R/E549X | HC |
| 11 | F | 39 | BBS1: R429X/N | Truncated |
| 12 | M | 28 | BBS1: R429X/N | Truncated |
| 13 | M | 27 | BBS2: P134fsX200/L209fsX229 | Truncated |
| 14 | M | 19 | BBS4: Q247X/Q247X | Truncated |
| 15 | F | 31 | BBS5: K41fsX52/K41fsX52 | Truncated |
| 16 | F | 27 | BBS5: K41fsX52/K41fsX52 | Truncated |
| 17 | M | 21 | BBS5: K41fsX52/K41fsX52 | Truncated |
| 18 | F | 21 | BBS5: K41fsX52/K41fsX52 | Truncated |
| 19 | M | 24 | BBS6: (429delCT433delAG) D143fsX158/S479X | Truncated |
| 20 | M | 22 | BBS9: del exons 8 + 9 hmz | Truncated |
| 21 | M | 20 | BBS9: R278X/R278X | Truncated |
| 22 | F | 21 | BBS10: C91fsX95/C91fsX95 | Truncated |
| 23 | F | 28 | BBS10: C91fsX95/L348fsX360 | Truncated |
| 24 | M | 30 | BBS10: C91fsX95/Y321X | Truncated |
| 25 | M | 34 | BBS10: R49W/R49W | MS |
| 26 | M | 21 | BBS10: R49W/L414S | MS |
| 27 | M | 23 | BBS12: F372fsX373/F372fsX373 | Truncated |
| 28 | M | 37 | BBS12: P159L/I346T | MS |
| 29 | M | 23 | BBS12: R355X/R355X | Truncated |
| 30 | F | 19 | BBS12: T257fsX266/T257fsX266 | Truncated |
| 31 | M | 19 | No known mutation | |
| 32 | F | 26 | No known mutation | |
| 33 | M | 21 | No known mutation |
Type of mutation: MS, missense mutation; HC, heterozygous composite. In bold, BBS gene owning to the BBSome; BBS6, BBS10, and BBS12 encode for the chaperonin-like proteins (see text).