Table 5.

Distribution of BBS genotypes of the 33 patients included in this case series

PatientSexAgeMutationsType of Mutation
1M34BBS1: M390R/M390RMS
2M21BBS1: M390R/M390RMS
3M18BBS1: M390R/M390RMS
4M35BBS1: M390R/M390RMS
5M38BBS1: M390R/M390RMS
6F53BBS1: M390R/M390RMS
7M17BBS1: M390R/M390RMS
8F28BBS1: M390R/E384XHC
9F21BBS1: M390R/E549XHC
10M21BBS1: M390R/E549XHC
11F39BBS1: R429X/NTruncated
12M28BBS1: R429X/NTruncated
13M27BBS2: P134fsX200/L209fsX229Truncated
14M19BBS4: Q247X/Q247XTruncated
15F31BBS5: K41fsX52/K41fsX52Truncated
16F27BBS5: K41fsX52/K41fsX52Truncated
17M21BBS5: K41fsX52/K41fsX52Truncated
18F21BBS5: K41fsX52/K41fsX52Truncated
19M24BBS6: (429delCT433delAG) D143fsX158/S479XTruncated
20M22BBS9: del exons 8 + 9 hmzTruncated
21M20BBS9: R278X/R278XTruncated
22F21BBS10: C91fsX95/C91fsX95Truncated
23F28BBS10: C91fsX95/L348fsX360Truncated
24M30BBS10: C91fsX95/Y321XTruncated
25M34BBS10: R49W/R49WMS
26M21BBS10: R49W/L414SMS
27M23BBS12: F372fsX373/F372fsX373Truncated
28M37BBS12: P159L/I346TMS
29M23BBS12: R355X/R355XTruncated
30F19BBS12: T257fsX266/T257fsX266Truncated
31M19No known mutation
32F26No known mutation
33M21No 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).