Fig 1 Aiii Ai B PRS 183 KCNJ

Fig 1 Aiii Ai B PRS 183 KCNJ 2 1 I II 1 2 3 del/+ II 1 II 2 2 del/+ +/+ I 1 I 2 4 +/+ 1. 156 Mb SOX 9 II 3 II 4 = PRS, flat midface, pectus excavatum = cleft of soft palate, flat midface control

Fig 2 A I 1 2 FOXC 2 del rs 78542003 1 II 2 rs 78542003, FOXC 2 del 1 III 2 rs 78542003, FOXC 2 del lymphoedema distichiasis FOXC 2; c. 975 -984 del. CGCCGGGGGC, p. Ala 326 Thrfs. X 8 rs 78542003, FOXC 2 del PRS Bi Bii op pas op fb fb HCNE-F 2(wt)-m. Cherry Biii 48 hpf HCNE-F 2(var)-GFP Biv ep Bv ep ch HCNE-F 2(wt)-m. Cherry 48 hpf 5 dpf HCNE-F 2(var)-GFP ch 5 dpf merge Biii+Biv+brightfield 5 dpf

Fig 3 A 407 kb upstream of SOX 9 deletion = 6031 bp del-spanning: 5’ reference: 3’ reference: C A G T TA G A ACA TAT T T GC AC G A T T G G C A G T TA G A ACA TA t t t a t c c c a a a g t c a a t g c ac a g T T T GC AC G A T T G G PRS 116 1 I M ne g III 1 III 3 II 2 II 3 I 1 B del/+ II III 1 2 3 +/+ del/+ 1 2 del/+ = PRS 3 +/+ = deafness = feeding difficulties at birth +/+ = Dupuytren’s contracture