Table 1.
Mutations Identified in this Series of 46 Families (43 Mutations Found)
| Family | Ethnic Origin | Gene | Exon | Nucleotide Change | Predicted Amino Acid Change | State | Report/Date |
|---|---|---|---|---|---|---|---|
| K550 | Caucasian | BBS1 | 16 | c.1645G>T | p.E549X | Homozygous | Ref. 14/2002 |
| BBS2 | 13 | c.1659+3A>G† | splice mutation | Heterozygous | This study | ||
| 057015 | Tunisian* | BBS1 | 14 | c.1473+4A>G† | splice mutation | Homozygous | This study |
| BBS8 | 11 | c.1011C>G† | p.F337L | Heterozygous | This study | ||
| J118 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Heterozygous | Ref. 27/2003 |
| BBS1 | 16 | c.1645G>T | p.E549X | Heterozygous | Ref. 14/2002 | ||
| BBS9 | 5 | c.396G>C† | p.Q132H | Heterozygous | This study | ||
| 5360 | Caucasian | BBS10 | 2 | c.1598_1601delTAAC† | p.L533fsX22 | Homozygous | This study |
| BBS12 | 1 | c.355G>A | p.G119S | Heterozygous | Ref. 34/2010 | ||
| D257 | Caucasian | BBS10 | 2 | c.1090del A | p.N364TfsX5 | Homozygous | Ref. 40/2007 |
| BBS6 | 3 | c.926G>A† | p.R309H | Heterozygous | This study | ||
| E729 | Caucasian | BBS2 | 2 | c.311A>C | p.D104A | Heterozygous | Ref. 25/2001 |
| BBS2 | 15 | c.1895G>C | p.R632P | Heterozygous | Ref. 26/2009 | ||
| BBS10 | 2 | c.1333C>A† | p.L445I | Heterozygous | This study | ||
| E059 | Arabic | BBS3 | 3 | c.92C>T | p.T31M | Homozygous | Ref. 41/2004 |
| BBS8 | 5 | c.405G>A† | p.M135I | Heterozygous | This study | ||
| 9409 | Caucasian | BBS7 | 7 | c.632C>T | p.T211I | Homozygous | Ref. 42/2003 |
| BBS8 | 5 | c.284A>G† | p.K95R | Heterozygous | This study | ||
| E521 | Caucasian | BBS12 | 1 | c.2023C>T† | p.R675X | Heterozygous | This study |
| BBS12 | 1 | c.476C>T | p.P159L | Heterozygous | Ref. 13/2007 | ||
| BBS1 | 15 | c.1535G>A† | p.R512H | Heterozygous | This study | ||
| 7367 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 7833 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 0775 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 7881 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 6579 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 1502 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 9390 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 5943 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 9437 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 2532 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 3163 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| F248 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| 057016 | Tunisian* | BBS1 | 12 | c.1169T>G | p.M390R | Homozygous | Ref. 14/2002 |
| D597 | Caucasian | BBS1 | 6 | c.518+1G>A† | splice mutation | Heterozygous | This study |
| BBS1 | 12 | c.1169T>G | p.M390R | Heterozygous | Ref. 27/2003 | ||
| 7348 | Caucasian | BBS1 | 12 | c.1169T>G | p.M390R | Heterozygous | Ref. 27/2003 |
| BBS1 | 16 | c.1645G>T | p.E549X | Heterozygous | Ref. 14/2002 | ||
| 1087 | Caucasian | BBS10 | 2 | c.272 insertion T | p.C91LfsX5 | Homozygous | Ref. 15/2006 |
| E084 | Caucasian | BBS10 | 2 | c.272 insertion T | p.C91LfsX5 | Homozygous | Ref. 15/2006 |
| Q119 | Caucasian | BBS10 | 2 | c.272 insertion T | p.P.C91LfsX5 | Homozygous | Ref. 15/2006 |
| 9407 | Caucasian | BBS10 | 2 | c.1495G>T† | p.E499X | Homozygous | This study |
| F931 | Caucasian | BBS10 | 2 | c.968C>T† | p.A323V | Homozygous | This study |
| 5111 | Caucasian | BBS10 | 2 | c.272 insertion T | p.C91LfsX5 | Heterozygous | Ref. 15/2006 |
| BBS10 | 2 | c.907_910delAGTC | p.S303RfsX3 | Heterozygous | Ref. 15/2006 | ||
| 9438 | Caucasian | BBS10 | 2 | c.272 insertion T | p.C91LfsX5 | Heterozygous | Ref. 15/2006 |
| BBS10 | 2 | c.907_910delAGTC | p.S303RfsX3 | Heterozygous | Ref. 15/2006 | ||
| F699 | Caucasian | BBS10 | 2 | c.272 insertion T | p.C91LfsX5 | Heterozygous | Ref. 15/2006 |
| BBS10 | 2 | c.1677C>A | p.Y559X | Heterozygous | Ref. 34/2010 | ||
| 2834 | Caucasian | BBS10 | 2 | c.687delT† | p.P229fsX8 | Heterozygous | Ref. 15/2006 |
| BBS10 | 2 | c.907_910delAGTC | p.S303RfsX3 | Heterozygous | Ref. 15/2006 | ||
| E352 | Caucasian | BBS10 | 1 | c.145C>T | p.R49W | Heterozygous | Ref. 15/2006 |
| BBS10 | 2 | c.1804G>C† | p.V602L | Heterozygous | This study | ||
| 9398 | Caucasian | BBS10 | 1 | c.164T>C | p.L55P | Heterozygous | Ref. 34/2010 |
| BBS10 | 2 | c.1543_1546dupGATA† | p.T516RfsX7 | Heterozygous | This study | ||
| E325 | Caucasian | BBS2 | 2 | c.311A>C | p.D104A | Heterozygous | Ref. 25/2001 |
| BBS2 | 8 | c.823C>T† | p.R275X | Heterozygous | This study | ||
| 057012 | Tunisian* | BBS2 | 5 | c.565C>T | p.R189X | Homozygous | Ref. 28/2006 |
| M-679 | Caucasian | BBS2 | 8 | c.823C>T | p.R275X | Homozygous | Ref. 25/2001 |
| PK01 | Pakistani* | BBS2 | 11 | c.1658C>T | p.R413X | Homozygous | Ref. 24/2003 |
| M-002 | Caucasian | BBS5 | 8 | c.619–1G>C† | splice mutation | Homozygous | This study |
| 057010 | Tunisian* | BBS5 | 3 | c.149T>G† | p.L50R | Homozygous | This study |
| J585 | Caucasian | BBS7 | 7 | c.710_713delAGAG | p.K237fsX60 | Homozygous | Ref. 42/2003 |
| B-489 | Caucasian | BBS7 | 7 | c.632C>T | p.T211I | Homozygous | Ref. 42/2003 |
| J183 | Caucasian | BBS7 | 7 | c.632C>T | p.T211I | Homozygous | Ref. 42/2003 |
| 057013 | Tunisian* | BBS12 | 1 | 1560G>A† | p.W520X | Heterozygous | This study |
| BBS12 | 1 | c.355G>A | p.G119S | Heterozygous | Ref. 34/2010 | ||
| 061049 | Pakistani* | BBS3 | 3 | c.123+1118del53985† | Homozygous | This study |
*
DNA samples from the Tunisian and Pakistani families were obtained through the National Eye Institute; all others were obtained through the Berman-Gund Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary.
†
Novel mutations.