Table 1.
IFT140 Mutations Identified in Ten Individuals Affected with Mainzer-Saldino Syndrome and a Child with Jeune Syndrome
| Family | Pedigree | Diagnosis |
Allele 1 |
Allele 2 |
||
|---|---|---|---|---|---|---|
| Mutation | Predicted Effecta | Mutation | Predicted Effecta | |||
| FI | simplex, nonconsanguineous | MSS | c.2399+1G>T | loss of intron 19 donor splice-site | c.1990G>A | p.Glu664Lys (deleterious) |
| FI | simplex, nonconsanguineous | MSS | c.2399+1G>T | loss of intron 19 donor splice-site | c.1990G>A | p.Glu664Lys (deleterious) |
| FII | simplex, nonconsanguineous | MSS | c.932A>G | p.Tyr311Cys (deleterious) | c.857_860del | p.Ile286Lysfs∗6 |
| FIII | multiplex, consanguineous | MSS | c.1990G>A | p.Glu664Lys (deleterious) | c.1990G>A | p.Glu664Lys (deleterious) |
| FIV | multiplex, consanguineous | MSS | c.1990G>A | p.Glu664Lys (deleterious) | c.1990G>A | p.Glu664Lys (deleterious) |
| FV | multiplex, nonconsanguineous | MSS | c.634G>A | p.Gly212Arg (deleterious) and/or alteration exon 6 donor-splice site | c.3916dup | p.Ala1306Glyfs∗56 |
| FVI | simplex, consanguineous | MSS | c.699T>G | p.Ile233Met (deleterious) | c.699T>G | p.Ile233Met (deleterious) |
| FVII | simplex, nonconsanguineous | Jeune syndrome | c.2399+1G>T | loss of intron 19 donor splice-site | c.634G>A | p.Gly212Arg (deleterious) and/or alteration exon 6 donor splice site |
| FVIII | simplex, nonconsanguineous | MSS | c.1565G>A | p.Gly522Glu (deleterious) | no mutation identified | |
| FIX | simplex, nonconsanguineous | MSS | c.874G>A | p.Val292Met (deleterious) | no mutation identified | |
| FX | simplex, nonconsanguineous | MSS | c.1727G>A | p.Arg576Gln (deleterious) | no mutation identified | |
| FXI | simplex, nonconsanguineous | MSS | c.489C>T | p.Gly163Gly and creation of an additional donor splice site 4 bp upstream of intron 5 and predicted to result in c.488_491del (p.Glu164Thrfs∗10) | no mutation identified | |
a
Variant pathogenicity according to Align DGVD, Polyphen-2, SIFT, SpliceSiteFinder-like, MaxEntScan, NNSPLICE and Human Splicing Finder available through the Alamut Interpretation Software 2.0.