TABLE II.
Mutations Reported in BBS5
| BBS families | c.DNA | Predicted effect | Exon | State | Origin | Reference |
|---|---|---|---|---|---|---|
| 1 | c.123delA | p.Gly42GlnfsX11 | 2 | Ho | Tunisia | Smaoui et al. 2006 |
| 1 | 263_271indelGCTCTTA1 | Indel-1 fs X1 | 3 | Ho | Turkey | Li et al. 2004 |
| 1 | c.176G>A | p.Trp59X | 3 | Ho | Kurdish | Li et al. 2004 |
| 1 | c.214G>A | p.Gly72Ser | 4 | Ho | Somalia | This study |
| 1 | c.181T>A/G | p.Leu142X | 6 | Ho | Saudi Arabia | Li et al. 2004 |
| 1 | IVS6+3A>G1 | fsX in exon 71 | 7 | Ho | New Foundland | Li et al. 2004 |
| 1 | c.547G>A | p.Thr183Ala | 7 | Ho | Sri Lanka | This study |
| 2 | c.551A>G | p.Asn184Ser2 | 7 | He | Caucasian | Li et al. 2004 |
| 2 | c.620G>A | p.Arg207His2 | 8 | He | Caucasian | Li et al. 2004 |
| 1 | Deletion in intron 8 ->3′UTR | Exon 9−12 spliced out | 9−12 | Ho | Turkey | Nishimura et al. 2005 |
For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon, except for
1
where the mutations are reported as in the reference paper;
2
Uncertain pathogeneicity; Nucleotide numbers are derived from GenBank, RefSeq cDNA accession numbers: NM_152384.2 for BBS5.