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 |