Skip to main content

Advertisement

Table 1 Pathogenic mutations of TCS patients analyzed for TCOF1 expression:

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 [6, 9]
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 [7, 9, 21]
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 [7, 21]
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]