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Table 1 IRF6 mutations identified in VWS patients

From: A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts

Pt no.

SEX

Family history

Cleft type

Exon

IRF6 mutation

aa changed

Lip pit/nodules

VWS-1

M

positive

BCLP

7

c. 1040 G>T

p. Cys347Phe

2 pits

VWS-2

F

negative

BCLP

4

c. 265 A>G

p. Lys89Glu

2 pits

VWS-3

F

negative

RCLP

--

--

--

2 asymmetric pits

VWS-4

F

negative

BCLP

5

c. 411_412 insA

p. Lys137fsX3

2 pits

VWS-5

M

negative

BCL

3 + 4

c. 47 C>T, c. 290 A>G

p.Ala16Val, p.Tyr97Cys

2 pits

VWS-6

M

positive

BCLP

7

c. 969 G>A

p. Trp323X

2 pits

VWS-7

M

negative

RCLP

--

--

--

2 pits

VWS-8

F

negative

BCLP

4

c. 250 C>T

p. Arg84Cys

2 pits

VWS-9

F

negative

BCLP

4

c. 333 T>C

p. Tyr111Tyr

2 pits

VWS-N9

M

positive

BCLP, incomplete

4

c. 251 G>A

p. Arg84His

2 pits

VWS-11

F

negative

BCLP

4

c. 251 G>A

p. Arg84His

2 pits

VWS-12

M

negative

BCLP

--

--

--

2 pits

VWS-N90

F

positive

BCLP

4

c. 360-375 16 bp del

p. Gln120HisfsX24

2 pits

VWS-14

F

negative

LCL

--

--

--

2 asymmetric pits

VWS-15

M

negative

BCLP

--

--

--

2 pits

VWS-N93

M

negative

LCLP

3

c. 83 G>A

p. Trp28X

2 pits

VWS-N98

F

positive

LCLP

--

--

--

2 asymmetric pits

old pt

M

positive

LCLP

5

c.411 G>A

p. Lys137Lys

2 pits

194

M

negative

BCLP

7

c.871 A>C

p. Thr291Pro

2 pits