Table 3.
Direct DNA re-sequencing results (AD: autosomal dominant). Variants not following AD inheritance have not been studied further
| Family | Gene | Variant | WES result confirmed? | Ref. codon | New codon | Family analysis | Inheritance pattern compatible with AD | General population analysis |
|---|---|---|---|---|---|---|---|---|
| CY5500 | LAMA5 | p.P1243L | YES | CCG | CTG | YES | YES | 0/81 0/159a |
| COL4A5 | p.D654Y | YES | GAT | TAT | YES | YES | 0/54 0/305a |
|
| CY5372 | LAMB2 | p.S1361 W | YES | TCG | TGG | YES | NO | – |
| CY5381 | MMP24 | p.G119R | YES | GGG | GGA | YES | More samples needed | 0/54 |
| CY5394 | SYNPO2L | p.R158H | YES | CGC | CTG | YES | More samples needed | – |
| NID1 | p.V937 M | YES | GTG | GTA | YES | NO | – | |
| CY5417 | TJP1 | p.R143Q | YES | CGG | CAG | YES | NO | – |
aResults from patients’ cohorts tested in our lab