Table 2.
A summary of mutations in TTC37 found in children with THES, their ethnicity and consanguinity (NM_014639.2; NP_055454.1)
| Family Identifier |
Number of affected individuals |
Ethnicity | Consanguinity | Mutation 1 | Mutation 2 |
|---|---|---|---|---|---|
| 1 | 2 | Indian | No | c.2808G>A p.Trp936X |
c.2808G>A p.Trp936× |
| 2 | 1 | Dutch | No | c.3847G>A p.Asp1283Asn |
|
| 3 | 1 | Pakistani | Yes | c.2779-2G>A p.Glu974Glyfs*19 |
c.2779-2G>A p.Glu974Glyfs*19 |
| 4 | 1 | Kurdish | Yes | c.1632+1delG p.Glu545Phefs*40 |
c.1632+1delG p.Glu545Phefs*40 |
| 5 | 1 | Pakistani | Yes | c.2779-2G>A p.Glu974Glyfs*19 |
c.2779-2G>A p.Glu974Glyfs*19 |
| 6 | 1 | Pakistani | Yes | c.751G>A p.Phe215Glufs*14 |
c.751G>A p.Phe215Glufs*14 |
| 7 | 1 | Pakistani | Yes | c.2808G>A p.Trp936X | c.2808G>A p.Trp936× |
| 8 | 1 | English | No | c.1300_1301delAA p.Lys434Lysfs*14 |
c.4514T>C p.Leu1505Ser |
| 9 | 1 | Italian | No | c.439C>T p.Gln147X |
c.2251C>T p.Gln751× |
| 10 | 1 | Flemish | No | c.3847G>A | |
| p.Asp1283Asn | |||||
| 11 | 1 | Pakistani | Yes | c.2808G>A p.Trp936X |
c.2808G>A p.Trp936X |