Menu utilisateur

Accès à distance ? S'identifier sur le proxy UCLouvain

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Onglets principaux

Wuyts, W. Roland, D. Ludecke, HJ Wauters, J. Foulon, Michel [UCL] Van Maldergem, L.

Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1. (C) 2002 Wiley-Liss, Inc.

Type de document Communication à un colloque (Conference Paper) – Présentation orale avec comité de sélection
Type d'accès Accès restreint
Année de publication 2002
Langue Anglais
Conférence "49th Annual Meeting of the American-Society-of-Human-Genetics", SAN FRANCISCO(California) (Oct 19-23, 1999)
Information sur le périodique "American Journal of Medical Genetics" - Vol. 113, no. 4, p. 326-332 (2002)
Peer reviewed oui
issn 0148-7299
Editeur Wiley-liss (New York)
Affiliations UCL - Autre
Mots-clés Bone ; Exostoses ; Microdeletion Syndrome ; Hypertrichosis
Liens
  1. Ahn Jung, Lüdecke Hermann-Josef, Lindow Steffi, Horton William A., Lee Brendan, Wagner Michael J., Horsthemke Bernhard, Wells Dan E., Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1), 10.1038/ng1095-137
  2. Balducci R., Toscano V., Tedeschi B., Mangiantini A., Toscano R., Galasso C., Cianfarani S., Boscherini B., A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22), 10.1111/j.1399-0004.1998.tb02596.x
  3. Bartsch, Am J Hum Genet, 58, 734 (1996)
  4. Baumeister F. A. M., Egger J., Schildhauer M. T., Stengel-Rutkowski S., Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22), 10.1111/j.1399-0004.1993.tb03862.x
  5. Bernard Mark A., Hall Catherine E., Hogue Deborah A., Cole William G., Scott Allison, Snuggs Mark B., Clines Gregory A., L�decke Hermann-Josef, Lovett Michael, Van Winkle W. Barry, Hecht Jacqueline T., Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes, 10.1002/1097-0169(200102)48:2<149::aid-cm1005>3.0.co;2-3
  6. Charlier Carole, Singh Nanda A., Ryan Stephen G., Lewis Tracey B., Reus Bonnie E., Leach Robin J., Leppert Mark, A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family, 10.1038/ng0198-53
  7. Cook, Am J Hum Genet, 53, 71 (1993)
  8. Delgado-Escueta, Adv Neurol, 79, 351 (1999)
  9. Fong G.C.Y., Shah Pravina U., Gee Manyee N., Serratosa Jose M., Castroviejo Ignacio Pascual, Khan Sonia, Ravat Sangeeta H., Mani Jayanthi, Huang Y., Zhao H.Z., Medina Marco T., Treiman Lucy J., Pineda Gregorio, Delgado-Escueta Antonio V., Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24, 10.1086/302066
  10. Giedion, Helv Paediat Acta, 21, 475 (1966)
  11. Hennekam R C, Hereditary multiple exostoses., 10.1136/jmg.28.4.262
  12. Hou J., Parrish J., Lüdecke H.-J., Sapru M., Wang Y., Chen W., Hill A., Siegel-Bartelt J., Northrup H., Elder F.F.B., Chinault C., Horsthemke B., Wagner M.J., Wells D.E., A 4-Megabase YAC Contig That Spans the Langer-Giedion Syndrome Region on Human Chromosome 8q24.1: Use in Refining the Location of the Trichorhinophalangeal Syndrome and Multiple Exostoses Genes (TRPS1 and EXT1), 10.1006/geno.1995.1218
  13. Jaffe, Arch Pathol, 36, 335 (1943)
  14. Langer Leonard O., Krassikoff Natalie, Laxova Renata, Scheer-Williams Mary, Lutter Lowell D., Gorlin Robert J., Jennings Charles G., Day Donald W., The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): Four additional patients without mental retardation and review of the literature, 10.1002/ajmg.1320190110
  15. Le Merrer Marline, Legeai-Mallet Laurence, Jeannin Patricia Margaritte, Horsthemke Bernhard, Schlnzel Albert, Plauchu Henri, Toutaln Annick, Achard Frédéric, Munnich Arnold, Maroteaux Pierre, A gene for hereditary multiple exostoses maps to chromosome 19p, 10.1093/hmg/3.5.717
  16. Lüdecke Hermann-Josef, Ahn Jung, Lin X., Hill A., Wagner Michael J., Schomburg Lutz, Horsthemke Bernhard, Wells Dan E., Genomic Organization and Promoter Structure of the Human EXT1 Gene, 10.1006/geno.1996.4577
  17. Lüdecke H.-J., Schmidt O., Nardmann J., von Holtum D., Meinecke P., Muenke M., Horsthemke B., Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8, 10.1007/s004399900176
  18. Lüdecke H.-J., Schaper J., Meinecke P., Momeni P., Groß S., von Holtum D., Hirche H., Abramowicz M.J., Albrecht B., Apacik C., Christen H.-J., Claussen U., Devriendt K., Fastnacht E., Forderer A., Friedrich U., Goodship T.H.J., Greiwe M., Hamm H., Hennekam R.C.M., Hinkel G.K., Hoeltzenbein M., Kayserili H., Majewski F., Mathieu M., McLeod R., Midro A.T., Moog U., Nagai T., Niikawa N., Ørstavik K.H., Plöchl E., Seitz C., Schmidtke J., Tranebjærg L., Tsukahara M., Wittwer B., Zabel B., Gillessen-Kaesbach G., Horsthemke B., Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III, 10.1086/316926
  19. Lüdecke Hermann-Josef, Momeni Parastoo, Glöckner Gernot, Schmidt Olaf, von Holtum Diane, Albrecht Beate, Gillessen-Kaesbach Gabriele, Hennekam Raoul, Meinecke Peter, Zabel Bernhard, Rosenthal André, Horsthemke Bernhard, 10.1038/71717
  20. Morita Ryoji, Miyazaki Emi, Fong Chung-yan G., Chen Xiao-Ning, Korenberg Julie R., Delgado-Escueta Antonio V., Yamakawa Kazuhiro, JH8,a Gene Highly Homologous to the MousejerkyGene, Maps to the Region for Childhood Absence Epilepsy on 8q24, 10.1006/bbrc.1998.8947
  21. Roland, Genet Counsel, 10, 209 (1999)
  22. Schmale G A, Conrad E U, Raskind W H, The natural history of hereditary multiple exostoses. : , 10.2106/00004623-199407000-00005
  23. Solomon, J Bone Joint Surg, 45, 292 (1963)
  24. Stickens Dominique, Clines Gregory, Burbee David, Ramos Purita, Thomas Sylvia, Hogue Deborah, Hecht Jacqueline T., Lovett Michael, Evans Glen A., The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes, 10.1038/ng0996-25
  25. Tadin Marija, Braverman Elizabeth, Cianfarani Stefano, Sobrino Antonio J., Levy Brynn, Christiano Angela M., Warburton Dorothy, Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome, 10.1002/1096-8628(20010722)102:1<100::aid-ajmg1396>3.0.co;2-o
  26. Van Hul Wim, Wuyts Wim, Hendrickx Jan, Speleman Frank, Wauters Jan, De Boulle Kristel, Van Roy Nadine, Bossuyt Paul, Willems Patrick J., Identification of a Third EXT-like Gene (EXTL3) Belonging to the EXT Gene Family, 10.1006/geno.1997.5101
  27. Van Maldergem, Am J Hum Genet, 65, A347 (1999)
  28. Wauters J.G., Bossuyt P.J., Davidson J., Hendrickx J., Kilimann M.W., Willems P.J., Regional mapping of a liver α-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp, 10.1159/000133334
  29. Wiedemann Hans-Rudolf, Oldigs Hans-Dieter, Oppermann Hans-Conrad, Oster Oskar, Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder, 10.1002/ajmg.1320460412
  30. Wu Y.-Q., Heutink P., de Vries B. B. A., Sandkuijl L. A., van den Ouweland A. M. W., Niermeijer M. F., Galjaard H., Reyniers E., Willems P. J., J. J.Halley D., Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11, 10.1093/hmg/3.1.167
  31. Wuyts Wim, Van Hul Wim, Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes, 10.1002/(sici)1098-1004(200003)15:3<220::aid-humu2>3.0.co;2-k
  32. Wuyts, Am J Hum Genet, 57, 382 (1995)
  33. Wuyts W, Positional cloning of a gene involved in hereditary multiple exostoses, 10.1093/hmg/5.10.1547
  34. Wuyts, Eur J Hum Genet, 7, 579 (1999)
  35. Wuyts W., The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500), 10.1136/jmg.37.12.916
  36. Wuyts Wim, Van Hul Wim, Bartsch Oliver, Wilkie Andrew O.M., Meinecke Peter, Burning down DEFECT11, 10.1002/ajmg.1267
Référence bibliographique Wuyts, W. ; Roland, D. ; Ludecke, HJ ; Wauters, J. ; Foulon, Michel ; et. al. Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.49th Annual Meeting of the American-Society-of-Human-Genetics (SAN FRANCISCO(California), Oct 19-23, 1999). In: American Journal of Medical Genetics, Vol. 113, no. 4, p. 326-332 (2002)
Permalien http://hdl.handle.net/2078.1/61855