Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1

Cytogenetic and Genome Research

Volumn 125, Issue 1, 2009, Pages 1-7

  Krepischi Santos, A C V ^a,b   Rajan, D ^c   Temple, I K ^d,e   Shrubb, V ^d,e,f   Crolla, J A ^g   Huang, S ^g   Beal, S ^g   Otto, P A ^a   Carter, N P ^c   Vianna Morgante, A M ^a   Rosenberg, C ^a,b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b A C CAMARGO CANCER CENTER   (Brazil)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f Southampton Community Trust   (United Kingdom)

^g SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

Array CGH; Mental retardation; Microdeletion; TP53; Tumor suppressor genes

Indexed keywords

ARTICLE; CANCER RISK; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME MAP; DLG4 GENE; FACIES; FEMALE; GABARAP GENE; GENE; GENE DELETION; GPS2 GENE; HUMAN; KCTD11 GENE; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TP53 GENE; TUMOR SUPPRESSOR GENE; ADOLESCENT; CHROMOSOME 17; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENETICS; PHENOTYPE;

DLG4 PROTEIN, HUMAN; GABARAP PROTEIN, HUMAN; GPS2 PROTEIN, HUMAN; KCTD11 PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROTUBULE ASSOCIATED PROTEIN; POTASSIUM CHANNEL; SIGNAL PEPTIDE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DOSAGE; GENES, P53; GENES, TUMOR SUPPRESSOR; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MICROTUBULE-ASSOCIATED PROTEINS; PHENOTYPE; POTASSIUM CHANNELS;

EID: 67849083157     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000218743     Document Type: Article

References (21)

1. Agha MM, Williams JI, Marrett L, To T, Zipursky A, Dodds L: Congenital abnormalities and childhood cancer. Cancer 103: 1939-1948 (2005).
2. Altmann AE, Halliday JL, Giles GG: Associations between congenital malformations and childhood cancer. A register-based casecontrol study. Br J Cancer 78: 1244-1249 (1998).
3. Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, et al: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1: 8 (2008).
4. Beique JC, Andrade R: PSD-95 regulates synaptic transmission and plasticity in rat cerebral cortex. J Physiol 546: 859-867 (2003).
5. Bjorge T, Cnattingius S, Lie RT, Tretli S, Engeland A: Cancer risk in children with birth defects and in their families: a population based cohort study of 5.2 million children from Norway and Sweden. Cancer Epidemiol Biomarkers Prev 17: 500-506 (2008).
6. De Smaele E, Di Marcotullio L, Ferretti E, Screpanti I, Alesse E, Gulino A: Chromosome 17p deletion in human medulloblastoma: a missing checkpoint in the Hedgehog pathway. Cell Cycle 3: 1263-1266 (2004). (Pubitemid 40268608)
7. Di Marcotullio L, Ferretti E, De SE, Screpanti I, Gulino A: Suppressors of hedgehog signaling: linking aberrant development of neural progenitors and tumorigenesis. Mol Neurobiol 34: 193-204 (2006). (Pubitemid 46268974)
8. Ferretti E, De Smaele E, Di Marcotullio L, Screpanti I, Gulino A: Hedgehog checkpoints in medulloblastoma: the chromosome 17p deletion paradigm. Trends Mol Med 11: 537-545 (2005). (Pubitemid 41713995)
9. Gallo R, Zazzeroni F, Alesse E, Mincione C, Borello U, et al: REN : a novel, developmentally regulated gene that promotes neural cell differentiation. J Cell Biol 158: 731-740 (2002).
10. Handa K, Yugawa T, Narisawa-Saito M, Ohno S, Fujita M, Kiyono T: E6AP-dependent degradation of DLG4/PSD95 by high-risk human papillomavirus type 18 E6 protein. J Virol 81: 1379-1389 (2007). (Pubitemid 46167859)
11. Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, et al: Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res 115: 254-261 (2006). (Pubitemid 44832028)
12. Malkin D: The role of p53 in human cancer. J Neurooncol 51: 231-243 (2001).
13. Mehes K, Szule E, Torzsok F, Meggyessy V: Supernumerary nipples and urologic malignancies. Cancer Genet Cytogenet 24: 185-188 (1987).
14. Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP: Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10:83-87 (2001). (Pubitemid 32172424)
15. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, et al: Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63: 6643-6650 (2003). (Pubitemid 37322942)
16. Peng YC, Kuo F, Breiding DE, Wang YF, Mansur CP, Androphy EJ: AMF1 (GPS2) modulates p53 transactivation. Mol Cell Biol 21: 5913-5924 (2001). (Pubitemid 32737808)
17. Rosenberg C, Knijnenburg J, Bakker E, Vianna- Morgante AM, Sloos W, et al: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 43: 180-186 (2006). (Pubitemid 43259635)
18. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, et al: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41: 241-248 (2004). (Pubitemid 38496765)
19. Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, et al: Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci USA 105: 11264-11269 (2008).
20. Weiergraber OH, Stangler T, Thielmann Y, Mohrluder J, Wiesehan K, Willbold D: Ligand binding mode of GABAA receptor-associated protein. J Mol Biol 381: 1320-1331 (2008).
21. Zhang D, Harry GJ, Blackshear PJ, Zeldin DC: G-protein pathway suppressor 2 (GPS2) interacts with the regulatory factor X4 variant 3 (RFX4-v3) and functions as a transcriptional co-activator. J Biol Chem 283: 8580-8590 (2008).