Craniofrontonasal syndrome: Molecular genetics, EFNB1 mutations and the concept of cellular interference

Monographs in Human Genetics

Volumn 19, Issue , 2011, Pages 107-118

  Wieland, I ^a,b  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84866088071     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000318427     Document Type: Article

References (54)

1. Cohen MM Jr: Craniofrontonasal dysplasia. Birth Defects Orig Art Ser 1979;15:85-89. (Pubitemid 10132718)
2. Slover R, Sujansky E: Frontonasal dysplasia with coronal craniosynostosis in three sibs. Birth Defects Orig Art Ser 1979;15:75-83. (Pubitemid 10183908)
3. Rollnick B, Day D, Tissot R, Kaye C: A pedigree possible evidence for the metabolic interference hypothesis. Am J Hum Genet 1981;33:823-826.
4. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, et al: Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 2004;74:1209-1215. (Pubitemid 38669319)
5. Twigg S R F, Kan R, Babbs C, Bochukova EG, Robertson SP, et al: Mutations of ephrin-B1(EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 2004;101:8652-8657. (Pubitemid 38745826)
6. Morris CA, Palumbos JC, Carey JC: Delineation of the male phenotype in craniofrontonasal syndrome. Am J Med Genet 1987;27:623-631. (Pubitemid 17103699)
7. Kere J, Ritvanen A, Martinnen E, Kaitila I: Craniofrontonasal dysostosis: variable expression in a three-generation family. Clin Genet 1990;38:441-446.
8. Wieacker P, Wieland I: Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox. Mol Gen Metabol 2005;86:110-116. (Pubitemid 41412166)
9. Twigg S R F, Versnel SL, Nürnberg G, Lees MM, Bhat M, et al: Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 2009;84:698-705.
10. Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen MM: Craniofrontonasal syndrome: Study of 41 patients. Am J Med Genet 1996;61:147-151.
11. Feldman GJ, Ward DE, Lajeunie-Renier E, Saavedra D, Robin NH, et al: A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22. Hum Mol Genet 1997;6:1937-1941. (Pubitemid 27460371)
12. Twigg S R F, Matsumoto K, Kidd A M J, Goriely A, Taylor IB, et al: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 2006;78:999-1010. (Pubitemid 43787691)
13. Migeon BR: Females are mosaics: X inactivation and sex differences in disease. (Oxford University Press, Oxford/New York 2007).
14. Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P: Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet 2008;16:184-191.
15. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-1239. (Pubitemid 23001082)
16. Johnson WG: Metabolic interference and +- heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet 1980;32:374-386. (Pubitemid 11105563)
17. Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P: Mapping of a further locus for X-linked craniofrontonasal syndrome. Cytogenet Genome Res 2002;99:285-288. (Pubitemid 37467855)
18. Compagni A, Logan M, Klein R, Adams R: Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell 2003;5:217-230. (Pubitemid 37006467)
19. Carrel L, Willard HF: X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005;434:400-404. (Pubitemid 40469185)
20. Klein R: Eph/ephrin signaling in morphogenesis, neural development and plasticity. Curr Opin Cell Biol 2004;16:580-589. (Pubitemid 39201244)
21. Pasquale EB: Eph receptor signalling casts a wide net on cell behaviour. Nat Rev Mol Cell Biol 2005;6:462-475. (Pubitemid 40780558)
22. Poliakov A, Cotrina M, Wilkinson DG: Diverse roles of Eph receptors and ephrins in the regulation of cell migration and tissue assembly. Dev Cell 2004;7:465-480. (Pubitemid 39341833)
23. Kalo MS, Yu H-H, Pasquale EB: In vivo tyrosine phosphorylation sites of activated ephrin-B1 and EphB2 from neural tissue. J Biol Chem 2001;276:38940-38948.
24. Lu Q, Sun EE, Klein RS, Flanagan JG: Ephrin-b reverse signaling is mediated by a novel PDZ-RGS protein and selectively inhibits G protein-coupled chemoattraction. Cell 2001;105:69-79. (Pubitemid 32323917)
25. Cowan CA, Henkemeyer M: The SH2/SH3 adaptor Grb4 transduces B-ephrin reverse signals. Nature 2001;413:174-179. (Pubitemid 32867879)
26. Zimmer M, Palmer A, Köhler J, Klein R: EphB-ephrinB bi-directional endocytosis terminates adhesion allowing contact mediated repulsion. Nat Cell Biol 2003;5:869-878. (Pubitemid 37220692)
27. Marston DJ, Dickinson S, Nobes CD: Rac-dependent trans-endocytosis of ephrinBs regulates Eph-ephrin contact repulsion. Nat Cell Biol 2003;5:879-888. (Pubitemid 37220693)
28. Davy A, Bush JO, Soriano P: Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome. Plos Biol 2006;4:e315.
29. Bong Y-S, Lee H-S, Carim-Todd L, Mood K, Nishanian TG, Tessarollo L, Daar IO: EphrinB1 signals from the cell surface to the nucleus by recruitment of STAT3. Proc Natl Acad Sci USA 2007;104:17305-17310. (Pubitemid 350219838)
30. Dalva MB, Takasu MA, Lin MZ, Shamah SM, Hu L, Gale NW, Greenberg ME: EphB receptors interact with NMDA receptors and regulate excitatory synapse formation. Cell 2000;103:945-956.
31. Tanaka M, Kamata R, Sakai R: Phosphorylation of ephrin-B1 via the interaction with claudin following cell-cell contact formation. EMBO J 2005;24:3700-3711. (Pubitemid 41581687)
32. Schmitt AM, Shi J, Wolf AM, Lu CC, King LA, Zou Y: Wnt-Ryk signalling mediates medial-lateral retinotectal topographic mapping. Nature 2006;439:31-37. (Pubitemid 43053621)
33. Lee HS, Nishanian TG, Mood K, Bong YS, Daar IO: EphrinB1 controls cell-cell junctions through the Par polarity complex. Nat Cell Biol 2008;10:979-986.
34. Morriss-Kay GM, Wilkie A O M: Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat 2005;207:637-653. (Pubitemid 41723374)
35. Mundy GR, Elefteriou F: Boning up on ephrin signaling. Cell 2006;126:441-443. (Pubitemid 44163612)
36. Merril AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, et al: Cell mixing at a neural crest - mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Gen 2006;15:1319-1328.
37. Edwards CM, Mundy GR: Eph receptors and ephrin signaling pathways: a role in bone homeostasis. Int J Med Sci 2008;5:263-272.
38. Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, et al: Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mut 2005;26:113-118. (Pubitemid 41040679)
39. Shotelersuk V, Siriwan P, Ausavarat S: A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. Cleft Palate Craniofac J 2006;43:152-154.
40. Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K: EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. Congenit Anom (Kyoto) 2007;47:49-52. (Pubitemid 46208101)
41. Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, et al: Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clin Genet 2007;72:506-516. (Pubitemid 350131054)
42. Wallis D, Lacbawan F, Jain M, der Kaloustian VM, Steiner CE, et al: Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet 2008;146:2008-2012.
43. Nikolov DB, Li C, Barton WA, Himanen J-P: Crystal structure of the ephrin-B1 ectodomain: Implications for receptor recognition and signaling. Biochemistry 2005;44:10947-10953. (Pubitemid 41209031)
44. Maquat LE: Nonsense-mediated mRNA decay: Splicing, translation and mRNA dynamics. Nat Rev Mol Cell Biol 2004;5:89-99. (Pubitemid 38160252)
45. Makarov R, Steiner B, Preisler-Adams S, Rauch A, Wieacker P, Wieland I: Expression and functional analysis of EFNB1 mutations in craniofrontonasal syndrome. Eur Hum Genet Conf 2009;P02.168.
46. Babbs C, Stewart H, Williams L, Connell L, Goriely A, et al: Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. Eur Hum Genet Conf 2009;C04.6.
47. Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie A O M: Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996;13:48-53. (Pubitemid 26139293)
48. Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie A O M: Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet 2006;14:887-888.
49. Xu Q, Mellitzer G, Robinson V, Wilkinson DG: In vivo cell sorting in complementary segmental domains mediated by Eph receptors and ephrins. Nature 1999;399:267-271. (Pubitemid 29246457)
50. Mellitzer G, Xu Q, Wilkinson DG: Eph receptors and ephrins restrict cell intermingling and communication. Nature 1999;400:77-81. (Pubitemid 29315114)
51. Davy A, Aubin J, Soriano P: Ephrin-B1 forward and reverse signaling are required during mouse development. Genes Dev 2004;18:572-583. (Pubitemid 38372813)
52. Dibbens LM, Tarpey PS, Hynes K, Bayly M, Scheffer IE, et al: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008;40:776-781. (Pubitemid 351748867)
53. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, et al: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. Plos Genet 2009;5:e1000381.
54. Twigg S R F, Healy C, Babbs C, Sharpe JA, Wood WG, et al: Skeletal analysis of the Fgfr3 (P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. Dev Dyn 2009;238:331-342.