Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

Human Mutation

Volumn 26, Issue 5, 2005, Pages 426-436

  Bocciardi, Renata ^a   Giorda, Roberto ^b   Marigo, Valeria ^c   Zordan, Paola ^a   Montanaro, Donatella ^c   Gimelli, Stefania ^a   Seri, Marco ^d   Lerone, Margherita ^a   Ravazzolo, Roberto ^a,e   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

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

^d UNIVERSITY OF BOLOGNA   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Balanced translocation; CGH; Chromosomal mutation; Neurological phenotype; TCBA1

Indexed keywords

ANIMAL CELL; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHROMOSOME 6Q; CHROMOSOME MUTATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MALE; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TCBA1 GENE;

ALTERNATIVE SPLICING; BASE SEQUENCE; BRAIN; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; EMBRYO; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; NERVOUS SYSTEM DISEASES; PHENOTYPE; RNA, MESSENGER; SEQUENCE DELETION; TRANSLOCATION, GENETIC;

ANIMALIA;

EID: 27644486344     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20235     Document Type: Article

References (31)

1. Alberti L, Carniti C, Miranda C, Roccato E, Pierotti MA. 2003. RET and NTRK1 proto-oncogenes in human diseases. J Cell Physiol 1952:168-186.
2. Barnier JV, Papin C, Eychen A, Lecoq O, Calothy O. 1995. The mouse B-raf gene encodes multiple protein isoforms with tissue-specific expression. J Biol Chem 270:23381-23389.
3. Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen, PKA, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen KR, Rasmussen K, Tommerup N. 2000. Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 37:858-865.
4. Buniello A, Montanaro D, Volinia S, Gasparini P, Marigo V. 2004. An expression atlas of connexin genes in the mouse. Genomics 83:812-820.
5. Bystritskiy AA, Razin SV. 2004. Breakpoint clusters: reason or consequence? Crit Rev Eukaryot Gene Expr 14:65-77.
6. Chang F, Steelman LS, Shelton JG, Lee JT, Navolanic PM, Blalock WL, Franklin R, McCubrey JA. 2003. Regulation of cell cycle progression and apoptosis by the Ras/Raf/MEK/ERK pathway [review]. Int J Oncol 223:469-480.
7. Collins FS. 1995. Positional cloning moves from perditional to traditional. Nat Genet 9:347-350.
8. Published erratum in Nat Genet 11:104.
9. Giorda R, Cerritello A, Bonaglia MC, Bova, S, Lanzi G, Repetti E, Giglio S, Baschirotto C, Pramparo T, Avolio L, Bragheri R, Maraschio P, Zuffardi O. 2004. Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6; 15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet 41:e71.
10. Henegariu O, Nyla A, Heerema A, Vance GH. 1997. Mild "duplication 6q syndrome": a case with partial trisomy 6q23.3q25.3. Am J Med Genet 68:450-454.
11. Hindley A, Kolch W. 2002. Extracellular signal regulated ERK/mitogen activated protein kinase MAPK-independent functions of Raf kinases. J Cell Science 115:1575-1581.
12. Hodgson G, Hager JH, Volik S, Hariono S, Wernick M, Moore D, Nowak N, Albertson DG, Pinkel D, Collins C, Hanahan D, Gray JW. 2001. Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas. Nat Genet 29:459-464.
13. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. 1997. New insights to the phenotypes of 6q deletions. Am J Med Genet 70:377-386.
14. Kleinjan DJ, van Heyningen V. 1998. Position effect in human genetic disease. Hum Mol Genet 710:1611-1618.
15. Mercer KE, Pritchard CA. 2003. Raf proteins and cancer: B-Raf is identified as a mutational target. Biochim Biophys Acta 1653:25-40.
16. O'Neill E, Kolch W. 2004. Conferring specificity on the ubiquitous Raf/MEK signalling pathway. Br J Cancer 26:283-288.
17. Pratt VM, Roberson JR, Weiss L, Van Dyke DL. 1998. Duplication 6q21q23 in two unrelated patients. Am J Med Genet 80:112-114.
18. Rual JF, Ceron J, Koreth J, Hao T, Nicot AS, Hirozane-Kishikawa T, Vandenhaute J, Orkin SH, Hill DE, van den Heuvel S, Vidal M. 2004. Toward improving Caenorhabditis elegans phenome mapping with an ORFeome-based RNAi library. Genome Res 1410B:2162-2168.
19. Schinzel, A. 2001. Catalogue of unbalanced chromosome aberrations in man. Second revised and expanded edition. Berlin/New York: Walter de Gruyter. p 28-34; 77-114; 261-290.
20. Schwartz S, Kent WJ, Smit A, Zhang Z, Baertsch R, Hardison R, Haussler H, Miller W. 2003. Human-mouse alignments with BLASTZ. Genome Res 131:103-107.
21. Shaffer LG, Lupski JR. 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34:297-329.
22. Shaw CJ, Lupski JR. 2004. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13:R57-R64.
23. Simmer F, Moorman C, Van Der Linden AM, Kuijk E, Van Den Berghe PV, Kamath R, Fraser AG, Ahringer J, Plasterk RH. 2003. Genome-wide RNAi of C. elegans using the hypersensitive rrf-3 strain reveals novel gene functions. PLoS Biol 11:E12.
24. Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS. 1999. Subtle overlapping deletions in the terminal region of chromosome 6q24-2-q26: three cases studied using fish. Am J Med Genet 87:17-22.
25. Tagawa H, Miura I, Suzuki R, Hosokawa Y, Seto M. 2002. Molecular cytogenetic analysis of the breakpoint region at 6q21-22 in T-cell lymphoma/leukemia cell lines. Genes Chromosomes Cancer 34:175-185.
26. Tijsterman M, May RC, Simmer F, Okihara KL, Plasterk RH. 2004. Genes required for systemic RNA interference in Caenorhabditts elegans. Curr Biol 142:111-116.
27. Tommerup N. 1993. Mendelian cytogenetics. Chromosome rearrangements associated with Mendelian disorders. J Med Genet 30:713-727.
28. Tonk VS, Wyandt HE, Huang X, Patel N, Morgan DL, Kukolich M, Lockhart LH, Velagaleti GVN. 2003. Disease associated balanced chromosome rearrangements DBCR: report of two new cases. Ann Genet 46:37-43.
29. Tsukahara M, Yoneda J, Azuma R, Nakashima K, Kito N, Ouchi K, Kanehara Y. 1997. Interstitial deletion of 6q21-q23 associated with split hand. Am J Med Genet 69:268-270.
30. Wellbrock C, Karasarides M, Marais R. 2004. The RAF proteins take centre stage. Nat Rev Mol Cell Biol 511:875-885.
31. Wessendorf S, Fritz B, Wrobel G, Nessling M, Lampel S, Goettel D, Kuepper M, Joos S, Hopman T, Kokocinski F, Dohner H, Bentz M, Schwaenen C, Lichter P. 2002. Automated screening for genomic imbalances using matrix-based comparative genomic hybridization. Lab Invest 82:47-60.