Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 110-116

  Wieacker, Peter ^a   Wieland, Ilse ^a  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

Cellular interference; CFND; Corpus callosum agenesis; Craniofrontonasal syndrome; EFNB1; Ephrin B1; Hypertelorism; Midline defect; Neurocristopathology; X chromosome

Indexed keywords

EPHRIN B1; EPHRIN RECEPTOR; LIGAND;

ABDOMINAL DISEASE; BONE DYSPLASIA; BRAIN DEVELOPMENT; CELL COMPARTMENTALIZATION; CELL MIGRATION; CHROMOSOME XQ; CHROMOSOME XQ12; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CRANIOFRONTONASAL SYNDROME; DISEASE SEVERITY; EFNB 1 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HAIR DISEASE; HEAD AND NECK MALFORMATION; HETEROZYGOTE; HUMAN; LIMB DEFECT; MUTATIONAL ANALYSIS; NAIL DISEASE; NEURAL CREST CELL; PATIENT; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SHORT SURVEY; SIGNAL TRANSDUCTION; SKELETON MALFORMATION; SKIN DISEASE; STOP CODON; THORAX DEFORMITY; UROGENITAL TRACT DISEASE; X CHROMOSOME LINKED DISORDER;

EID: 26244467724     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.017     Document Type: Review

References (46)

1. I. Wieland, S. Jakubiczka, P. Muschke, M. Cohen, H. Thiele, K.L. Gerlach, R.H. Adams, and P. Wieacker Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome Am. J. Hum. Genet. 74 2004 1209 1215
2. S.R.F. Twigg, R. Kann, C. Babbs, E.G. Bochukova, S.P. Robertson, S.A. Wall, G.M. Morris-Kay, and A.O.M. Wilkie Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome Proc. Natl. Acad. Sci. USA 101 2004 8652 8657
3. A.C. Morris, J.C. Palumbos, and J.C. Carey Delineation of the male phenotype in craniofrontonasal syndrome Am. J. Med. Genet. 27 1987 623 631
4. D. Saavedra, A. Richieri-Costa, M.L. Guion-Almeida, and M.M. Cohen Craniofrontonasal syndrome: Study of 41 patients Am. J. Med. Genet. 61 1996 147 151
5. G.J. Feldman, D.E. Ward, E. Lajeunie-Renier, D. Saavedra, N.H. Robin, V. Proud, L.J. Robb, V. Der Kaloustian, J.C. Carey, M. Cohen, V. Cornier, A. Munnich, E.H. Zackai, A.O.M. Wilkie, R.A. Price, and M. Muenke A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22 Hum. Mol. Genet. 6 1997 1937 1941
6. J. Kere, A. Ritvanen, E. Martinnen, and I. Kaitila Craniofrontonasal dysostosis: variable expression in a three-generation family Clin. Genet. 38 1990 441 446
7. I. Wieland, W. Reardon, S. Jakubiczka, B. Franco, W. Kress, C. Vincent-Delorme, P. Thierry, M. Edwards, R. König, C. Rusu, S. Schweiger, E. Thompson, S. Tinschert, F. Stewart, and P. Wieacker Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) Hum. Mutat. 26 2005 113 118
8. I. Wieland, S. Jakubiczka, P. Muschke, A. Wolf, L. Gerlach, M. Krawczak, and P. Wieacker Mapping of a further locus for X-linked craniofrontonasal syndrome, Cytogenet Genome Res. 99 2002 285 288
9. V.V. Michels, D.P. Derleth, A.D. Hoffman, and A.S. Goldston Craniofrontonasal dysostosis with deafness and axillary pterygia Am. J. Med. Genet. 34 1989 445 450
10. A.S Brooks, M. Van Dooren, J. Hoogeboom, S. Gischler, P.J. Willems, and D. Tibboel Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome Clin. Dysmorphol. 11 2002 151 153
11. A. Compagni, M. Logan, R. Klein, and R. Adams Control of skeletal patterning by EphrinB1-EphB interactions Dev. Cell 5 2003 217 230
12. D.G. Wilkinson Multiple roles of EPH receptors and ephrins in neural development Nat. Rev. Neurosci. 2 2001 155 164
13. K. Kullander, and R. Klein Mechanisms and functions of Eph and ephrin signaling Nat. Rev. Mol. Cell Biol. 3 2002 475 486
14. R. Klein Eph/ephrin signaling in morphogenesis, neural development and plasticity Curr. Opin. Cell. Biol. 16 2004 580 589
15. Y. Yamaguchi, and E.B. Pasquale Eph receptors in the adult brain Curr. Opin. Cell Biol. 14 2004 288 296
16. D. Schmucker, and S.L. Zipursky Signaling downstream of Eph receptors and ephrin ligands Cell 105 2001 701 704
17. C.A. Cowan, and M. Henkemeyer Ephrins in reverse, park and drive Trends Cell Biol. 12 2002 339 346
18. K.K. Murai, and E.B. Pasquale 'Eph'ective signaling: forward, reverse and crosstalk J. Cell Sci. 116 2003 2823 2832
19. C.A. Cowan, and M. Henkemeyer The SH2/SH3 adaptor Grb4 transduces B-ephrin reverse signals Nature 413 2001 174 179
20. U. Huynh-Do, C. Vindis, H. Liu, D.P. Cerretti, J.T. McGrew, M. Enriquez, J. Chen, and T.O. Daniel Ephrin-B1 transduces signals to activate integrin-mediated migration, attachment and angiogenesis J. Cell Sci. 115 2002 3073 3081
21. K. Brückner, J.P. Labrador, P. Scheiffele, A. Herb, P.H. Seeburg, and R. Klein EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains Neuron 22 1999 511 524
22. R. Torres, B. Firestein, H. Dong, J. Staudinger, E.N. Olson, R.L. Huganir, D.S. Bredt, N.W. Gale, and G.D. Yancopoulos PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands Neuron 21 1998 1453 1463
23. Q. Lu, E.E. Sun, R.S. Klein, and J.G. Flanagan Ephrin-B reverse signaling is mediated by a novel PDZ-RGS protein and selectively inhibits G protein-coupled chemoattraction Cell 105 2001 69 79
24. M.S. Kalo, H.-H. Yu, and E.B. Pasquale In vivo tyrosine phorsphorylation sites of activated ephrin-B1 and EphB2 from neural tissue J. Biol. Chem. 276 2001 38940 38948
25. J.-P. Himanen, K.R. Rajashankar, M. Lackmann, C.A. Cowan, M. Henkemeyer, and D.B. Nikolov Crystal structure of an Eph receptor-ephrin complex Nature 414 2001 933 938
26. J. Toth, T. Cutforth, A.D. Gelinas, K.A. Bethoney, J. Bard, and C.J. Harrison Crystal structure of an ephrin ectodomain Dev. Cell 1 2001 83 92
27. B. Day, C. To, J.-P. Himanen, F.M. Smith, D.B. Nikolov, A.W. Boyd, and M. Lackmann Three distinct molecular surfaces in ephrin-A5 are essential for a functional interaction with EphA3 J. Biol. Chem. 280 2005 26526 26532
28. J.-P. Himanen, M.J. Chumley, M. Lackmann, C. Li, W.A. Barton, P.D. Jeffrey, C. Vearing, D. Geleick, D.A. Feldheim, A.W. Boyd, M. Henkemeyer, and D.B. Nikolov Repelling class discrimination: ephrin-A5 binds to and activates EphB2 receptor signaling Nat. Neurosci. 7 2004 501 509
29. E.B. Pasquale Eph-ephrin promiscuity is now crystal clear Nat. Neurosci. 7 2004 417 418
30. L.E. Maquat Nonsense-mediated mRNA decay: Splicing, translation and mRNA dynamics Nat. Rev. Mol. Cell Biol. 5 2004 89 99
31. Z. Su, P. Xu, and F. Ni Single phosphorylation of Tyr304 in the cytoplasmic tail of ephrin B2 confers high-affinity and bifunctional binding to both the SH2 domain of Grb4 and the PDZ domain of the PDZ-RGS3 protein Eur. J. Biochem. 271 2004 1725 1736
32. M. Zimmer, A. Palmer, J. Köhler, and R. Klein EphB-ephrinB bi-directional endocytosis terminates adhesion allowing contact mediated repulsion Nat. Cell Biol. 5 2003 869 878
33. D.J. Marston, S. Dickinson, and C.D. Nobes Rac-dependent trans-endocytosis of ephrinBs regulates Eph-ephrin contact repulsion Nat. Cell Biol. 5 2003 879 888
34. L. Carrel, and H.F. Willard X-inactivation profile reveals extensive variability in X-linked gene expression in females Nature 434 2005 400 404
35. Q. Xu, G. Mellitzer, V. Robinson, and D.G. Wilkinson In vivo cell sorting in complementary segmental domains mediated by Eph receptors and ephrins Nature 399 1999 267 271
36. G. Mellitzer, Q.L. Xu, and D.G. Wilkinson Eph receptors and ephrins restrict cell intermingling and communication Nature 400 1999 77 81
37. K.B. Moore, K. Mood, I.O. Daar, and S.A. Moody Morphogenetic movements underlying eye field formation require interactions between the FGF and ephrinB1 signaling pathways Dev. Cell 6 2004 55 67
38. J.E. Cooke, H.A. Kemp, and C.B. Moens EphA4 is required for cell adhesion and rhombomere-boundary formation in zebrafish Curr. Biol. 15 2005 536 542
39. W.G. Johnson Metabolic interference and +-heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive Am. J. Hum. Genet. 32 1980 374 386
40. N. Le Dourain, and C. Kalchheim The Neural Crest 1999 Cambridge Universtiy Press Cambridge
41. C.F. Hoth, A. Milunsky, N. Lipsky, R. Sheffer, S.K. Clarren, and C.T. Baldwin Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WSIII) as well as Waardenburg syndrome type I (WS-I) Am. J. Hum. Genet. 52 1993 455 462
42. M. Tassabehji, A.P. Read, V.E. Newton, M. Patton, P. Gruss, R. Harris, and T. Strachan Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2 Nat. Genet. 3 1993 26 30
43. C. Braybrook, K. Doudney, A.C. Marcano, A. Arnason, A. Bjornsson, M.A. Patton, P.J. Goodfellow, G.E. Moore, and P. Stanier The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia Nat. Gent. 29 2001 179 183
44. A. Santiago, and C.A. Erickson Ephrin-B ligands play a dual role in the control of neural crest migration Development 129 2002 3621 3632
45. D. Orioli, M. Henkemeyer, G. Lemke, R. Klein, and T. Pawson Sek4 and Nuk receptors cooperate in guidance of commissural axons and in palate formation EMBO J. 15 1996 6035 6049
46. A. Davy, J. Aubin, and P. Soriano Ephrin-B1 forward and reverse signaling are required during mouse development Genes Dev. 18 2004 572 583