Constitutional chromoanasynthesis: Description of a rare chromosomal event in a patient

European Journal of Medical Genetics

Volumn 57, Issue 10, 2014, Pages 567-570

  Plaisancié, Julie ^a   Kleinfinger, Pascale ^b   Cances, Claude ^c   Bazin, Anne ^b   Julia, Sophie ^a   Trost, Detlef ^b   Lohmann, Laurence ^b   Vigouroux, Adeline ^a  

^a CHU PURPAN   (France)

^b LABORATOIRE CERBA   (France)

^c HÔPITAL DES ENFANTS   (France)

Author keywords

Chromoanasynthesis; Chromothripsis; Complex chromosomal rearrangement; FoSTes; MMBIR

Indexed keywords

ARTICLE; CANCER CELL; CASE REPORT; CHILD; CHROMOSOME 18; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOTHRIPSIS; CONSTITUTIONAL CHROMOANASYNTHESIS; CRANIOFACIAL MALFORMATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; RARE DISEASE; CHROMOSOME ABERRATION; GENE REARRANGEMENT; GENETICS; GENOMIC INSTABILITY; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 18; CRANIOFACIAL ABNORMALITIES; GENE REARRANGEMENT; GENOMIC INSTABILITY; HUMANS; INTELLECTUAL DISABILITY; MALE; SYNDROME;

EID: 84908211410     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.07.004     Document Type: Article

References (22)

1. Boeva V., Jouannet S., Daveau R., Combaret V., Pierre-Eugène C., Cazes A., et al. Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis. PLoS One 2013, 8:e72182.
2. Chen J.M., Férec C., Cooper D.N. Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Mutat Res 2012, 750:52-59.
3. Chiang C., Jacobsen J.C., Ernst C., Hanscom C., Heilbut A., Blumenthal I., et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet 2012, 44:390-397.
4. Crasta K., Ganem N.J., Dagher R., Lantermann A.B., Ivanova E.V., Pan Y., et al. DNA breaks and chromosome pulverization from errors in mitosis. Nature 2012, 482:53-58.
5. Gajecka M., Glotzbach C.D., Shaffer L.G. Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res 2006, 14:277-282.
6. Genesio R., Ronga V., Castelluccio P., Fioretti G., Mormile A., Leone G., et al. Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event. Mol Cytogenet 2013, 6:29.
7. Hastings P.J., Ira G., Lupski J.R. Amicrohomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 2009, 5:e1000327.
8. Holland A.J., Cleveland D.W. Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements. Nat Med 2012, 18:1630-1638.
9. Kloosterman W.P., Hoogstraat M., Paling O., Tavakoli-Yaraki M., Renkens I., Vermaat J.S., et al. Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer. Genome Biol 2011, 12:R103.
10. Kloosterman W.P., Tavakoli-Yaraki M., van Roosmalen M.J., van Binsbergen E., Renkens I., Duran K., et al. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep 2012, 1:648-655.
11. Kloosterman W.P., Cuppen E. Chromothripsis in congenital disorders and cancer: similarities and differences. Curr Opin Cell Biol 2013, 25:341-348.
12. Lee J.A., Carvalho C.M., Lupski J.R. ADNA replication mechanism for generating non recurrent rearrangements associated with genomic disorders. Cell 2007, 131:1235-1247.
13. Liu P., Erez A., Nagamani S.C., Dhar S.U., Kolodziejska K.E., Dharmadhikari A.V., et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 2011, 146:889-903.
14. Magrangeas F., Avet-Loiseau H., Munshi N.C., Minvielle S. Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients. Blood 2011, 118:675-678.
15. Malhotra A., Lindberg M., Faust G.G., Leibowitz M.L., Clark R.A., Layer R.M., et al. Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms. Genome Res 2013, 5:762-776.
16. Mehine M., Kaasinen E., Aaltonen L.A. Chromothripsis in uterine leiomyomas. NEngl J Med 2013, 369:2160-2161.
17. Molenaar J.J., Koster J., Zwijnenburg D.A., van Sluis P., Valentijn L.J., van der Ploeg I., et al. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature 2012, 483:589-593.
18. Nazaryan L., Stefanou E.G., Hansen C., Kosyakova N., Bak M., Sharkey F.H., et al. The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2. Eur J Hum Genet 2013, 22:338-343.
19. Rausch T., Jones D.T., Zapatka M., Stütz A.M., Zichner T., Weischenfeldt J., et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 2012, 148:59-71.
20. Shim S.H., Wyandt H.E., McDonald-McGinn D.M., Zackai E.Z., Milunsky A. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Clin Genet 2004, 66:46-52.
21. Stephens P.J., Greenman C.D., Fu B., Yang F., Bignell G.R., Mudie L.J., et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011, 144:27-40.
22. Zhang F., Carvalho C.M., Lupski J.R. Complex human chromosomal and genomic rearrangements. Trends Genet 2009, 25:298-307.