Table 3.
Genetic mutations.
| Patient | Family history | Gene | Mutation | Phenotype | State | Comments |
|---|---|---|---|---|---|---|
| Patient 1 | − |
WFS1 Exon 8 |
Missense variant c.1495C→T |
OA + | Heterozygous | Most of the bioinformatics programs predict that the variant is a benign polymorphism |
| Patient 2 | − |
WFS1 Exon 8 |
Missense mutation c.1831C→T |
OA + Tremor |
Heterozygous | New mutation in the literature |
| Patient 3 | + (sister) |
WFS1 Exon 8 |
Missense mutation c.2620G→A |
OA + Drop foot |
Heterozygous | New mutation in the literature |
| Patient 4 | − |
WFS1 Exon 8 |
Missense mutation c.2020G→A |
OA + DM + HL + |
Homozygous | Mutation already described in the literature |
| Patient 5 | + (brother) |
WFS1 Exon 8 |
Indel mutation c.1046_1047delinsAG | OA + DM + HL + Ataxia |
Heterozygous | New mutation in the literature Leads to an amino acid exchange in position 349 of the protein sequence |
| Patient 6 | + (2 brothers) |
WFS1 Exon 8 |
Deletion c.2343_2644delCT |
OA + DM + DI + HL + |
Homozygous | Premature stop codon Truncated WFS1 protein Mutation already described in the literature |
| Patient 7 | + (1 uncle) |
WFS1 Exon 8 |
Run-on mutation c.2673A→C | OA + | Homozygous | Mutation leading to the elimination of the normal stop codon and degradation of themRNA (nonsense-mediated decay) New mutation in the literature |
| Patient 8 | − |
WFS1 Exon 8 |
Missense mutation c.2104G→A |
OA + | Homozygous | New mutation in the literature |
| Patient 9 | − |
WFS1 Exon 8 |
Non-stop mutation c.2373A→C |
OA + DM + |
Homozygous | Mutation leading to the elimination of the normal stop codon and degradation of themRNA (nonsense-mediated decay) New mutation in the literature |
| Patient 10 | − |
WFS1 Exon 8 |
Missense variant c.2452C→T |
OA + DI + |
Heterozygous | This variant has been described in the homozygous state as a disease-causing WFS mutationin one family. However, the heterozygous state of our patient would not sufficiently explain the phenotype |
| Patient 11 | − |
WFS1 Exon 8 |
Missense mutation c.1633G→A |
OA + DI + Ataxia |
Heterozygous | New mutation in the literature |
| Patient 12 | − |
WFS1 Exon 8 |
Missense mutation c.577A→C |
OA + | Heterozygous | Most of the bioinformatics programs predict that the variant is a benign polymorphism |
| Patient 13 | − |
WFS1 Exon 8 |
Missense mutation c.2620G→A | OA + | Heterozygous | New mutation in the literature |
| Patient 14 | + (sister) |
WFS1 Exon 8 |
Missense mutation c.2620G→A | OA + DI + HL + Ataxia |
Heterozygous | New mutation in the literature |
| Patient 15 | + (sister, below) |
WFS1 Exon 8 |
Missense mutation c.1123C→T | OA + | Heterozygous | New mutation in the literature |
| Patient 16 | + (sister, above) |
WFS1 Exon 8 |
Missense mutation c.1123C→T | OA + | Heterozygous | New mutation in the literature |
| Patient 17 | + (brother, below) |
WFS1 Exon 8 |
Nonsense mutation c.2034G→A | OA + DM + |
Heterozygous | Premature stop codon Truncated WFS1 protein New mutation in the literature |
| Patient 18 | + (brother, above) |
WFS1 Exon 8 |
Nonsense mutation c.2034G→A | OA + DM + |
Heterozygous | Premature stop codon Truncated WFS1 protein New mutation in the literature |
Note. The table shows the genetic mutations found in WFS+ patients.