Mutations in ANTXR1 cause GAPO syndrome

American Journal of Human Genetics

Volumn 92, Issue 5, 2013, Pages 792-799

  Stránecký, Viktor ^a   Hoischen, Alexander ^b   Hartmannová, Hana ^a   Zaki, Maha S ^c   Chaudhary, Amit ^d   Zudaire, Enrique ^d   Nosková, Lenka ^a   Barešová, Veronika ^a   Přistoupilová, Anna ^a   Hodaňová, Kateřina ^a   Sovová, Jana ^a   Hůlková, Helena ^a   Piherová, Lenka ^a   Hehir Kwa, Jayne Y ^b   De Silva, Deepthi ^e   Senanayake, Manouri P ^f   Farrag, Sameh ^g   Zeman, Jiří ^g   Martásek, Pavel ^g   Baxová, Alice ^g   Afifi, Hanan H ^c   St Croix, Brad ^d   Brunner, Han G ^b   Temtamy, Samia ^c   Kmoch, Stanislav ^a   more..

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c NATIONAL RESEARCH CENTRE   (Egypt)

^d FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

^e UNIVERSITY OF KELANIYA   (Sri Lanka)

^f UNIVERSITY OF COLOMBO   (Sri Lanka)

^g CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ANTXR1 GENE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHROMOSOME 2; ETHNICITY; EXTRACELLULAR MATRIX; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; STOP CODON; SYNDROME GAPO;

ALOPECIA; ALTERNATIVE SPLICING; ANODONTIA; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CODON, NONSENSE; DNA PRIMERS; EXTRACELLULAR MATRIX; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GROWTH DISORDERS; HOMEOSTASIS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; RECEPTORS, CELL SURFACE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

MUS;

EID: 84877585862     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.03.023     Document Type: Article

References (38)

1. R.E. Tipton, and R.J. Gorlin Growth retardation, alopecia, pseudo-anodontia, and optic atrophy - the GAPO syndrome: report of a patient and review of the literature Am. J. Med. Genet. 19 1984 209 216
2. E.M. Goloni-Bertollo, M.T. Ruiz, C.B. Goloni, M.P. Muniz, N.I. Valério, and E.C. Pavarino-Bertelli GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature Am. J. Med. Genet. A. 146A 2008 1523 1529
3. R. Sinha, A. Trikha, A. Laha, R. Raviraj, and R. Kumar Anesthetic management of a patient with GAPO syndrome for glaucoma surgery Paediatr. Anaesth. 21 2011 910 912
4. A. Nanda, W.A. Al-Ateeqi, M.A. Al-Khawari, Q.A. Alsaleh, and J.T. Anim GAPO syndrome: a report of two siblings and a review of literature Pediatr. Dermatol. 27 2010 156 161
5. S. Lei, S. Iyengar, L. Shan, D.H. Cherwek, S. Murthy, and A.M. Wong GAPO syndrome: a case associated with bilateral interstitial keratitis and hypothyroidism Clin. Dysmorphol. 19 2010 79 81
6. G. Castrillon-Oberndorfer, R. Seeberger, C. Bacon, M. Engel, F. Ebinger, and O.C. Thiele GAPO syndrome associated with craniofacial vascular malformation Am. J. Med. Genet. A. 152A 2010 225 227
7. G. Kocabay, and M. Mert GAPO syndrome associated with dilated cardiomyopathy: an unreported association Am. J. Med. Genet. A. 149A 2009 415 416
8. E.F. Demirgüneş, S. Ersoy-Evans, and A. Karaduman GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism Am. J. Med. Genet. A. 149A 2009 802 805
9. A. Wajntal, C.P. Koiffmann, B.B. Mendonça, D. Epps-Quaglia, M.N. Sotto, P.B. Rati, and J.M. Opitz GAPO syndrome (McKusick 23074) - a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older Am. J. Med. Genet. 37 1990 213 223
10. N.A. Meguid, H.H. Afifi, M.I. Ramzy, A. Hindawy, and S.A. Temtamy GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva Clin. Genet. 52 1997 110 115
11. A. Baxova, K. Kozlowski, E. Obersztyn, and J. Zeman GAPO syndrome (Radiographic clues to early diagnosis) Radiol. Med. (Torino) 93 1997 289 291
12. E. van de Steeg, V. Stránecký, H. Hartmannová, L. Nosková, M. Hřebíček, E. Wagenaar, A. van Esch, D.R. de Waart, R.P. Oude Elferink, and K.E. Kenworthy Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver J. Clin. Invest. 122 2012 519 528
13. L. Nosková, V. Stránecký, H. Hartmannová, A. Přistoupilová, V. Barešová, R. Ivánek, H. Hůlková, H. Jahnová, J. van der Zee, and J.F. Staropoli Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis Am. J. Hum. Genet. 89 2011 241 252
14. J. Becker, O. Semler, C. Gilissen, Y. Li, H.J. Bolz, C. Giunta, C. Bergmann, M. Rohrbach, F. Koerber, and K. Zimmermann Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Am. J. Hum. Genet. 88 2011 362 371
15. C. Gilissen, H.H. Arts, A. Hoischen, L. Spruijt, D.A. Mans, P. Arts, B. van Lier, M. Steehouwer, J. van Reeuwijk, and S.G. Kant Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome Am. J. Hum. Genet. 87 2010 418 423
16. A. Hoischen, B.W. van Bon, C. Gilissen, P. Arts, B. van Lier, M. Steehouwer, P. de Vries, R. de Reuver, N. Wieskamp, and G. Mortier De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Nat. Genet. 42 2010 483 485
17. A. Hoischen, B.W. van Bon, B. Rodríguez-Santiago, C. Gilissen, L.E. Vissers, P. de Vries, I. Janssen, B. van Lier, R. Hastings, and S.F. Smithson De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome Nat. Genet. 43 2011 729 731
18. L. Cartegni, J. Wang, Z. Zhu, M.Q. Zhang, and A.R. Krainer ESEfinder: A web resource to identify exonic splicing enhancers Nucleic Acids Res. 31 2003 3568 3571
19. P.J. Smith, C. Zhang, J. Wang, S.L. Chew, M.Q. Zhang, and A.R. Krainer An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers Hum. Mol. Genet. 15 2006 2490 2508
20. B. St Croix, C. Rago, V. Velculescu, G. Traverso, K.E. Romans, E. Montgomery, A. Lal, G.J. Riggins, C. Lengauer, B. Vogelstein, and K.W. Kinzler Genes expressed in human tumor endothelium Science 289 2000 1197 1202
21. E.B. Carson-Walter, D.N. Watkins, A. Nanda, B. Vogelstein, K.W. Kinzler, and B. St Croix Cell surface tumor endothelial markers are conserved in mice and humans Cancer Res. 61 2001 6649 6655
22. K.A. Bradley, J. Mogridge, M. Mourez, R.J. Collier, and J.A. Young Identification of the cellular receptor for anthrax toxin Nature 414 2001 225 229
23. S. Liu, and S.H. Leppla Cell surface tumor endothelium marker 8 cytoplasmic tail-independent anthrax toxin binding, proteolytic processing, oligomer formation, and internalization J. Biol. Chem. 278 2003 5227 5234
24. M. Vargas, R. Karamsetty, S.H. Leppla, and G.J. Chaudry Broad expression analysis of human ANTXR1/TEM8 transcripts reveals differential expression and novel splice variants PLoS ONE 7 2012 e43174
25. A. Nanda, E.B. Carson-Walter, S. Seaman, T.D. Barber, J. Stampfl, S. Singh, B. Vogelstein, K.W. Kinzler, and B. St Croix TEM8 interacts with the cleaved C5 domain of collagen alpha 3(VI) Cancer Res. 64 2004 817 820
26. K.A. Hotchkiss, C.M. Basile, S.C. Spring, G. Bonuccelli, M.P. Lisanti, and B.I. Terman TEM8 expression stimulates endothelial cell adhesion and migration by regulating cell-matrix interactions on collagen Exp. Cell Res. 305 2005 133 144
27. M.Y. Yang, A. Chaudhary, S. Seaman, J. Dunty, J. Stevens, M.K. Elzarrad, A.E. Frankel, and B. St Croix The cell surface structure of tumor endothelial marker 8 (TEM8) is regulated by the actin cytoskeleton Biochim. Biophys. Acta 1813 2011 39 49
28. E. Werner, A.P. Kowalczyk, and V. Faundez Anthrax toxin receptor 1/tumor endothelium marker 8 mediates cell spreading by coupling extracellular ligands to the actin cytoskeleton J. Biol. Chem. 281 2006 23227 23236
29. J. Gu, V. Faundez, and E. Werner Endosomal recycling regulates Anthrax Toxin Receptor 1/Tumor Endothelial Marker 8-dependent cell spreading Exp. Cell Res. 316 2010 1946 1957
30. K. Verma, J. Gu, and E. Werner Tumor endothelial marker 8 amplifies canonical Wnt signaling in blood vessels PLoS ONE 6 2011 e22334
31. M. Cullen, S. Seaman, A. Chaudhary, M.Y. Yang, M.B. Hilton, D. Logsdon, D.C. Haines, L. Tessarollo, and B. St Croix Host-derived tumor endothelial marker 8 promotes the growth of melanoma Cancer Res. 69 2009 6021 6026
32. G. Davies, K.A. Rmali, G. Watkins, R.E. Mansel, M.D. Mason, and W.G. Jiang Elevated levels of tumour endothelial marker-8 in human breast cancer and its clinical significance Int. J. Oncol. 29 2006 1311 1317
33. A. Chaudhary, and B. St Croix Selective blockade of tumor angiogenesis Cell Cycle 11 2012 2253 2259
34. S. Liu, D. Crown, S. Miller-Randolph, M. Moayeri, H. Wang, H. Hu, T. Morley, and S.H. Leppla Capillary morphogenesis protein-2 is the major receptor mediating lethality of anthrax toxin in vivo Proc. Natl. Acad. Sci. USA 106 2009 12424 12429
35. S. Goucha, B. Fazaa, N. Ezzine, K. Jaber, H. Elandaloussi, R. Abid, and M.R. Kamoun [GAPO syndrome] Ann. Dermatol. Venereol. 127 2000 501 504
36. M. Jinnin, D. Medici, L. Park, N. Limaye, Y. Liu, E. Boscolo, J. Bischoff, M. Vikkula, E. Boye, and B.R. Olsen Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma Nat. Med. 14 2008 1236 1246
37. C. Nicolae, and B.R. Olsen Unexpected matrix diseases and novel therapeutic strategies Cell Tissue Res. 339 2010 155 165
38. S. Hanks, S. Adams, J. Douglas, L. Arbour, D.J. Atherton, S. Balci, H. Bode, M.E. Campbell, M. Feingold, and G. Keser Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis Am. J. Hum. Genet. 73 2003 791 800