Table 1

Pathogenic mutations of TCS patients analyzed for TCOF1 expression:

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]


Masotti et al. BMC Medical Genetics 2009 10:136   doi:10.1186/1471-2350-10-136

Open Data