Table 1 Genetic and phenotypic data of the patients under study.
From: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
Patient | Gender | Origin | Gene | Variant | Reported study | RD | OB | PD | UA | CI | RA | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
GBB22 | F | Asian (India) | BBS1 | p.(Trp23*)/p.(Trp23*) | + | + | + | NA | NA | NA | − | |
RP1377 | F | Caucasian (Spanish) | BBS1 | p.(Val3661Asp)/p.(Val366Asp) | + | + | + | NA | − | − | CC | |
GBB27 | M | Caucasian (Spanish) | BBS1 | p.Met390Arg/p.(His504Hisfs*48) | + | + | + | NA | + | −/NA | HL, CA | |
RP1573^ | F | Caucasian (Spanish) | BBS5/BBS6 | p.Asn184Ser/wt p.(Gly411Ala)/p.(Gly411Ala) | Ref.29/This study | + | + | + | − | + | + | CAT, H, HT, D, GL |
RTP23 | M | Caucasian (Spanish) | BBS5 | p.(Arg138Cys)/wt wt/p.(Phe180Phefs*6) | This study (both) | + | + | + | + | + | − | CA |
