Table 5.
Psychological Concerns
| Patient | Age (years) | Mutation | Clinical data | Lifestyle | ||||
|---|---|---|---|---|---|---|---|---|
| BMI | blindness | VIQ | Profession | Living with a partner | Child wish | |||
| 1 | 22 | BBS1: c.[479G>A];[479G>A], p.[Arg160Gln];[Arg160Gln] |
>30 | yes | 60.5 | baker | no | no |
| 2 | 25 | BBS1: c.[1169T>G];[1169T>G], p.[Met390Arg];[Met390Arg] |
<30 | yes | 64 | telephone advisor | no | no |
| 3 | 24 | BBS1: c.[1169T>G];[1169T>G], p.[Met390Arg];[Met390Arg] |
<30 | No, residual visual acuity | 62 | telephone advisor | yes | yes |
| 4 | 36 | BBS1: c.[382C>T];[382C>T], p.[Gln128*];[Gln128*] |
>30 | yes | not performed | metallurgy worker | yes | no |
| 5 | 24 | BBS5: c.[413G>C];[413G>C], p.[Arg138Pro];[Arg138Pro] |
>30 | yes | 93 | groom | no | no |
| 6 | 35 | BBS10: c.[271dup];[963T>G], p.[Cys91Leufs*5];[Tyr321*] |
>40 | yes | 90 | office worker | no | no |
| 7 | 38 | BBS1: c.[1169T>G];[1214 _1215ins[MT113356]], p.[Met390Arg];[(Ala406 Glnfs*47)] | <25 | yes | 62 | professionnal sportman | no | no |
| 8 | 22 | BBS1: c.[1169T>G];[1169T>G], p.[Met390Arg];[Met390Arg] |
>40 | yes | 94.5 | economy student | no | no |
| 9 | 26 |
BBS9: c.[703-?_886+?del];[832C>T], p.[Val235Phefs*6];[Arg278*] |
>40 | yes | 102 | telephone advisor | no | no |
| 10 | 18 | BBS3: c.[535G>A];[535G>A], p.[Asp179Asn];[Asp179Asn] |
>30 | yes | 88.5 | musician (guitarist) | no | no |
| 11 | 39 | BBS12: c.[1037T>C];[1037T>C], p.[Ile346Thr];[Ile346Thr] |
>35 | yes | 68.5 | wood sawmill worker | no | no |