Table 1. Clinical features of CFNS and mutations of EFNB1
Additional clinical features
Mutation
Proband Coronal craniosynostosis Cleft lip and/or palate Duplex thumb hallux Agenesis of corpus callosum Other DNA Exon (intron) Protein Familial or de novo Confirmation Ref.*
1219 r, l 1A→G 1 M1V d BslI (+)
353 r 57G→A 1 W19X u AfeI (+) 10 [6]
656 P Sprengel shoulders 185T→C 2 I62T d ASO
344 l 196C→T 2 R66X d AvaI (-) 10 [5]
369 r, l L, P ± 246delG 2 P83fsX75 f HhaI (+) 10 [4]
2613 r, l + Lower-limb asymmetry 293T→C 2 L98S d BstXI (-)
723 rH + 344A→C 2 Q115P d MspI (+)
3167 r 355C→A 2 P119T f ASO 10 [10]
387 r + 356C→A 2 P119H u BstXI (-) 10 [9]
2301 + 406+1G→A (2) sp u ASO
347 r, l L, P + 407-1G→A (2) sp d PstI (-) 10 [7]
350 r 451G→A 3 G151S d AciI (-) 10 [3]
1257 r, l L, P 451G→A 3 G151S f AciI (-) 6
738 r, l 451G→A 3 G151S u AciI (-)
373 r, l 451G→A 3 G151S u AciI (-) 10 [2]
372 r P 452G→T 3 G151V d AciI (-) 10 [1]
1593 r, l rT ± I diaphragmatic hernia 463A→C 3 T155P d ASO
1041 l ± 472A→G 3 M158V f NlaIII (-)
1818 r, l 474G→T 3 M158I f MseI (+)
355 Sacrococcygeal teratoma 629-2A→G (4) sp u BslI (+) 10 [8]
  • r, Right side affected; l, left side affected; L, cleft lip; P, cleft palate; T, duplex thumb; H, duplex hallux; ±, partial agenesis of corpus callosum; sp, splicing mutation; d, proven de novo mutation; f, familial mutation; u, de novo mutation on clinical history but not molecularly proven; ASO, allele-specific oligonucleotide hydridization.

  • * Case numbers for patients reported in ref. 10 are given in brackets.

  • An additional rare variant, 461G→A (R154H), present on the opposite allele, was inherited from the unaffected mother.