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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]