SIFD patients and TRNT1 mutations
| Patient . | Consanguinity . | Ethnicity . | Allele 1 . | Allele 2 . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| 1A | Yes | South Asian (Pakistani) | c.569G>T | p.R190I | Exon 5 | Missense | c.569G>T | p.R190I | Exon 5 | Missense |
| 1B | Yes | South Asian (Pakistani) | c.569G>T | p.R190I | Exon 5 | Missense | c.569G>T | p.R190I | Exon 5 | Missense |
| 2 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1057-7C>G | NA | ivs7 | Splicing |
| 3 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1057-7C>G | NA | ivs7 | Splicing |
| 4 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | No mutation/deletion detected. | |||
| 5 | No | Caucasian | c.218_219ins22 | NA | Exon 3 | Frameshift | c.668T>C | p.I223T | Exon 6 | Missense |
| 6 | Yes | Caucasian (Hispanic) | c.668T>C | p.I223T | Exon 6 | Missense | c.668T>C | p.I223T | Exon 6 | Missense |
| 7 | No | Caucasian | c.497T>C | p.L166S | Exon 5 | Missense | c.461C>T | p.T154I | Exon 4 | Missense |
| 8 | Yes | South Asian (Pakistani) | c.569G>T | p.R190I | Exon 5 | Missense | c.569G>T | p.R190I | Exon 5 | Missense |
| 9 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1057-7C>G | NA | ivs7 | Splicing |
| 10 | No | Caucasian | c.977T>C | p.I326T | Exon 7 | Missense | c.472A>G | p.M158V | Exon 4 | Missense |
| 11 | No | Caucasian | c.608+1 G>T | NA | ivs5 | Splicing | c.461C>T | p.T154I | Exon 4 | Missense |
| 12A | No | Caucasian | c.1246A>G | p.K416E | Exon 8 | Missense | c. del1054_1056+10 | NA | Exon 7 | Splicing |
| 12B | No | Caucasian | c.1246A>G | p.K416E | Exon 8 | Missense | c. del1054_1056+10 | NA | Exon 7 | Splicing |
| 13 | No | Afro-Caribbean | c.668T>C | p.I223T | Exon 6 | Missense | c.1142insATGT | p.W381fs | Exon 8 | Frameshift |
| 14 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1252_1253insA | S418fs | Exon 8 | Frameshift |
| Patient . | Consanguinity . | Ethnicity . | Allele 1 . | Allele 2 . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| 1A | Yes | South Asian (Pakistani) | c.569G>T | p.R190I | Exon 5 | Missense | c.569G>T | p.R190I | Exon 5 | Missense |
| 1B | Yes | South Asian (Pakistani) | c.569G>T | p.R190I | Exon 5 | Missense | c.569G>T | p.R190I | Exon 5 | Missense |
| 2 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1057-7C>G | NA | ivs7 | Splicing |
| 3 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1057-7C>G | NA | ivs7 | Splicing |
| 4 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | No mutation/deletion detected. | |||
| 5 | No | Caucasian | c.218_219ins22 | NA | Exon 3 | Frameshift | c.668T>C | p.I223T | Exon 6 | Missense |
| 6 | Yes | Caucasian (Hispanic) | c.668T>C | p.I223T | Exon 6 | Missense | c.668T>C | p.I223T | Exon 6 | Missense |
| 7 | No | Caucasian | c.497T>C | p.L166S | Exon 5 | Missense | c.461C>T | p.T154I | Exon 4 | Missense |
| 8 | Yes | South Asian (Pakistani) | c.569G>T | p.R190I | Exon 5 | Missense | c.569G>T | p.R190I | Exon 5 | Missense |
| 9 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1057-7C>G | NA | ivs7 | Splicing |
| 10 | No | Caucasian | c.977T>C | p.I326T | Exon 7 | Missense | c.472A>G | p.M158V | Exon 4 | Missense |
| 11 | No | Caucasian | c.608+1 G>T | NA | ivs5 | Splicing | c.461C>T | p.T154I | Exon 4 | Missense |
| 12A | No | Caucasian | c.1246A>G | p.K416E | Exon 8 | Missense | c. del1054_1056+10 | NA | Exon 7 | Splicing |
| 12B | No | Caucasian | c.1246A>G | p.K416E | Exon 8 | Missense | c. del1054_1056+10 | NA | Exon 7 | Splicing |
| 13 | No | Afro-Caribbean | c.668T>C | p.I223T | Exon 6 | Missense | c.1142insATGT | p.W381fs | Exon 8 | Frameshift |
| 14 | No | Caucasian | c.668T>C | p.I223T | Exon 6 | Missense | c.1252_1253insA | S418fs | Exon 8 | Frameshift |
Patient 2 had a similarly affected sibling; however, DNA was not available for study. Complementary DNA numbering is based on NM_182916.2. Protein numbering is based on NP_886552.2.
A and B, sibling pairs; NA, not applicable.