Likely pathogenic variants and other variants identified in patients without a known mutation
| Patient ID | Sex | Age (y) | Mode | Clinical features | Gene | Transcript | c. | p. | Inheritance | Reference | Figure |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely pathogenic variants | |||||||||||
| V1.12 | M | 11 | ? | Ectodermal dysplasia | EDA | NM_001399.4 | c.[396+5G>A];[=] | p.[0?];[=] | Maternal | Novel | S39 |
| V2.07 | M | 14 | ? | AI hypomineralised, hypoplastic | MMP20 | NM_004771.3 | c.[954-2A>T];[126+6T>G] | p.[0?];[0?] | Compound heterozygous | 25 and novel | S40 |
| V2.13 | F | 17 | ? | AI hypoplastic, hypomature | MMP20 | NM_004771.3 | c.[954-2A>T](;)[c.103A>C] | p.[0?](;)[R35R] | ? | 25 and novel | S41 |
| V2.15 | M | 20 | ? | Spondyloepiphyseal dysplasia | GALNS | NM_000512.4 | c.[121-31];[935C>G] | p.[0?];[T312S] | Compound heterozygous | Novel and 81 | S42 |
| V2.32 | F | 26 | ? | AI hypomineralised, hypoplastic | FAM20A | NM_017565.3 | c.[590-2A>G;590-3C>A](;) [1294G>A] | p.[0?](;)[A432T] | Maternal and de novo | 82 and novel | S43 |
| V2.86 | F | 6 | ? | AI hypoplastic | LAMB3 | NM_000228.2 | c.[1903C>T];[=] | p.[R635*];[=] | Maternal, asymptomatic | 83 | S44 |
| Cases where only a single pathogenic variant was identified | |||||||||||
| V2.49 | F | 4 | ? | Mucopolysaccharidosis IVA | GALNS | NM_000512.4 | c.[1156C>T];[?] | p.[R386C];[?] | de novo | 84 | S45 |
AI, amelogenesis imperfecta; ID, intellectual disability.