Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2534-2536

  Thomas, Martha ^a   Enciso, Victoria ^a   Stratton, Robert ^a   Shah, Shafqat ^a   Winder, Thomas ^b   Tayeh, Marwan ^b   Roeder, Elizabeth ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^b Prevention Genetics   (United States)

Author keywords

GPC3; Medullobastoma; Simpson Golabi Behmel syndrome

Indexed keywords

BUSULFAN; CISPLATIN; CYCLOPHOSPHAMIDE; GLYPICAN 3; MELPHALAN; VINCRISTINE;

ARTICLE; AUTOLOGOUS BONE MARROW TRANSPLANTATION; BRAIN FOURTH VENTRICLE; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CASE REPORT; CERVICAL SPINAL CORD; CHILD; CLEFT PALATE; COARSE FACE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; ERYTHROCYTE TRANSFUSION; EXON; FOLLOW UP; FUNNEL CHEST; GENE; GENE DELETION; GPC3 GENE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INCONTINENCE; INTRON; MACROCEPHALY; MACROGLOSSIA; MACROSOMIA; MALE; MEDULLOBLASTOMA; MOLECULAR DIAGNOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSTRUCTIVE HYDROCEPHALUS; PARESTHESIA; PATIENT COMPLIANCE; POLYDACTYLY; POSTERIOR CRANIAL FOSSA TUMOR; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIMPSON GOLABI BEHMEL SYNDROME; SPINAL CORD METASTASIS; STOMACH TUBE; SYNDACTYLY; THORACIC SPINAL CORD; THROMBOCYTE TRANSFUSION; WEAKNESS;

BECKWITH-WIEDEMANN SYNDROME; CEREBELLAR NEOPLASMS; CHILD; CHROMOSOMES, HUMAN, X; EXONS; GLYPICANS; HUMANS; MALE; MEDULLOBLASTOMA; MUTATION; SPINAL CORD NEOPLASMS;

EID: 84866487313     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35284     Document Type: Article

References (12)

1. Beckwith JB. 1998. Nephrogenic rests and the pathogenesis of Wilms tumor: Developmental and clinical considerations. Am J Med Genet 79: 268-273.
2. Cano-Gauci DF, Song HH, Yang H, McKerlie C, Choo B, Shi W, Pullano R, Piscione TD, Grisaruo S, Soon S, Sedlackova L, Tanswell AK, Mak TW, Yegar H, Lockwood GA, Rosenblum ND, Filmus J. 1999. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Slimpson-Golabi-Behmel syndrome. J Cell Biol 146: 255-264.
3. Cohen MM Jr. 1998. A comprehensive and critical assessment of overgrowth and overgrowth syndromes, In: Harris H, Hirschhorn K, editors. Advances in human genetics, Vol 18. New York: Plenum Press. pp. 181-303, 373-376.
4. Filmus T. 2001. Mini Review: Glypicans in growth control and cancer. Glycobiology 11: 19R-23R.
5. Lapunzina P. 2005. Risk of tumorigenesis in overgrowth syndromes: A comprehensive review. Am J Med Genet Part C (Semin Med Genet) 137C: 53-71.
6. Neri G, Gurrieri F, Zanni G, Lin A. 1998. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 79: 279-283.
7. Paine-Saunders S, Viviano BL, Zupicich J, Skarnes WC, Saunders S. 2000. Glypican-3-controls cellular responses to Bmp4 in limb patterning and skeletal development. Dev Biol 225: 179-187.
8. Pilia G, Hughes-Benzie R, MacKenzie A, Baybayan P, Chen E, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. 1996. Mutations in GCP3, a glypican gene, cause the Simpson-Golabi-Behmel syndrome. Nature 12: 241-247.
9. Pelligrini M, Pilia G, Pantano S, Lucchini F, Uda M, Fumi M, Cao A, Schlessinger D, Forabosco A. 1998. GPC3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. Dev Dynam 213: 413-439.
10. Rodriguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, Gonzalez-Meneses A, Gomez de Terreros I, Valdez R, Gracia R, Lapunzina P. 2005. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. Am J Med Genet Part A 138A: 272-277.
11. Sakazume S, Nobuhiko O, Toshiyuki Y, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H. 2007. GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. Am J Med Genet Part A 143A: 1703-1707.
12. Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R. 1995. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet 59: 329-333.