Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Human Mutation

Volumn 26, Issue 2, 2005, Pages 113-118

  Wieland, Ilse ^a   Reardon, William ^b   Jakubiczka, Sibylle ^a   Franco, Brunella ^c   Kress, Wolfram ^d   Vincent Delorme, Catherine ^e   Thierry, Patrick ^f   Edwards, Matt ^g   König, Rainer ^h   Rusu, Cristina ⁱ   Schweiger, Susann ^j   Thompson, Elizabeth ^k   Tinschert, Sigrid ^l   Stewart, Fiona ^m   Wieacker, Peter ^a  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e Centre Hospitalier d'Arras   (France)

^f Centre Hospitalier Intercommunal de la Haute Saone   (France)

^g UNIVERSITY OF NEWCASTLE   (Australia)

^h UNIVERSITY HOSPITAL FRANKFURT   (Germany)

ⁱ 'Sf Maria' Children Emergency Hospital   (Romania)

^j MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^k WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^l DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^m ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

more..

Author keywords

CFND; CFNS; EFNB1; Ephrin B1; Midline defects; Skeletal abnormalities; X linked

Indexed keywords

DNA; EPHRIN; EPHRIN B1;

ARTICLE; BINDING SITE; BONE DYSPLASIA; CARBOXY TERMINAL SEQUENCE; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CODON; CRANIOFACIAL MALFORMATION; CRANIOFRONTONASAL SYNDROME; DNA SEQUENCE; EFNB1 GENE; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; HEMIZYGOTE; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN INTERACTION; SKELETON MALFORMATION; X CHROMOSOME LINKAGE;

EID: 22844439789     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20193     Document Type: Article

References (18)

1. Brückner K, Pasquale EB, Klein R. 1997. Tyrosine phosphorylation of transmembrane ligands for Eph receptors. Science 275:1640-1643.
2. Compagni A, Logan M, Klein R, Adams R. 2003. Control of skeletal patterning by EphrinB1-EphB interactions. Dev Cell 5:217-230.
3. Cowan CA, Henkemeyer M. 2001. The SH2/SH3 adaptor Grb4 transduces B-ephrin reverse signals. Nature 413:174-179.
4. Davy A, Aubin J, Soriano P. 2004. Ephrin-B1 forward and reverse signaling are required during mouse development. Genes Dev 18:572-583.
5. Devriendt K, Van Mol C, Fryns JP. 1995. Craniofrontonasal dysplasia: more severe expression in the mother than her son. Genet Couns 6:361-364.
6. Klein R. 2004. Eph/ephrin signaling in morphogenesis, neural development and plasticity. Curr Opin Cell Biol 16:580-589.
7. Lu Q, Sun EE, Klein RS, Flanagan JG. 2001. Ephrin-B reverse signaling is mediated by a novel PDZ-RGS protein and selectively inhibits G protein-coupled chemoattraction. Cell 105: 69-79.
8. Maquat LE. 2004. Nonsense-mediated mRNA decay: splicing, translation and mRNA dynamics. Nat Rev Mol Cell Biol 5:89-99.
9. Marston DJ, Dickinson S, Nobes CD. 2003. Rac-dependent trans-endocytosis of ephrinBs regulates Eph-ephrin contact repulsion. Nat Cell Biol 5:879-888.
10. Palmer P, Zimmer M, Erdmann KS, Eulenburg V, Porthin A, Heumann R, Deutsch U, Klein R. 2002. EphrinB phosphorylation and reverse signaling: regulation by src kinases and PTP-BL phosphatase. Mol Cell 9:725-737.
11. Pulleyn LJ, Winter RM, Reardon W, McKeown C, Jones B, Hayward R, Evans R, Malcom S. 1999. Further evidence from two families that craniofrontonasal dysplasia maps to Xp22. Clin Genet 55:473-477.
12. Reardon W, Temple IK, Jones B, Baraiter M. 1990. Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? Clin Genet 38:233-236.
13. Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen M. 1996. Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet 61:147-151.
14. Twigg SRF, Kann R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morris-Kay GM, Wilkie AOM. 2004. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 101: 8652-8657.
15. Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P. 2002. Mapping of a further locus for X-linked craniofrontonasal syndrome. Cytogenet Genome Res 99: 285-288.
16. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P. 2004. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 74:1209-1215.
17. Yamaguchi Y, Pasquale EB. 2004. Eph receptors in the adult brain. Curr Opin Cell Biol 14:288-296.
18. Zimmer M, Palmer A, Köhler J, Klein R. 2003. EphB-ephrinB bi-directional endocytosis terminates adhesion allowing contact mediated repulsion. Nat Cell Biol 5:869-878.