From: Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
DNA and RNA from leucocytes | |||||
---|---|---|---|---|---|
Patient | Pathogenic Mutation cDNA major isoform reference (AY460334) | genomic reference (NT_029289.10) | protein major isoform reference (AAR87774) | Screened in the present study? | Reference |
TCS1 | (intron 6) c.639+1G>A | g.11932G>A | disrupted splicing | Yes | New |
TCS2 | (exon 23) c.4061delC | g.38890delC | p.Pro1354fs | No | [21] |
TCS3 | (exon 10) c.1609C>T | g.17788C>T | p.Gln537X | Yes | New |
TCS4 | (exon 14)c.2478G>A | g.21371G>A | disrupted splicing | No | |
TCS5 | (exon 23) c.3853delC | g.38682delC | p.Gln1285fs | Yes | New |
TCS6 | (exon 18) c.3053_3054delGA | g.32222_32223delGA | p.Arg1018fs | No | [9] |
TCS7 | (exon 18) c.3053_3054delGA | g.32222_32223delGA | p.Arg1018fs | No | [9] |
TCS8 | (exon 24) c.4366_4370delGAAAA | g.40706_40710delGAAAA | p.Lys1457fs | No | |
TCS9 | Not detected | - | - | No | [3] |
TCS10 | (exon 8) c.1095_1096delAG | g.16957_16958delAG | p.Gly366fs | Yes | [24] |
TCS11 | (exon 8) c.1095_1096delAG | g.16957_16958delAG | p.Gly366fs | Yes | [24] |
TCS12 | (exon 24) c.4361_4365delAAAAA | g.40701_40705delAAAAA | p.Lys1454fs | No | |
TCS13 | (exon 9) c.1298delC | g.17302delC | p.Ala433fs | Yes | New |
TCS14 | Not detected | - | - | Yes | - |
TCS15 | Not detected | - | - | Yes | - |
TCS16 | (exon 3) c.218_222insAACC | g.6495_6499insAACC | p.Ala73fs | Yes | New |
TCS17 | Not screened | - | - | - | - |
TCS18 | (exon 24) c.4375_4377delAAG | g.40715_40715delAAG | p.Lys1459del | Yes | New |
TCS19 | (exon 12) c.2103_2106delTGAG | g.18620_18623delTGAG | p.Ser701fs | Yes | [21] |
TCS20 | (exon 12) c.2103_2106delTGAG | g.18620_18623delTGAG | p.Ser701fs | Yes | [21] |
DNA and RNA from mesenchymal cells | |||||
TCS16 | (exon 3) c.218_222insAACC | g.6495_6499insAACC | p.Ala73fs | - | - |
TCS21 | (exon 24) c.4344dupA | g.40684dupA | p.Arg1448fs | Yes | New |
TCS22 | (exon 5) c.431delC | g.11097delC | p.Thr144fs | Yes | New |
TCS23 | (exon 23) c.4218dupG | g.39047dupG | p.Ser1407fs | Yes | [9] |