Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts (Articolo in rivista)

Type
Label
  • Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10048-007-0109-x (literal)
Alternative label
  • Liquori C.L.; Penco S.; Gault J.; Leedom T.P.; Tassi L.; Esposito T.; Awad I.A.; Frati L.; Johnson E.W.; Squitieri F.; Marchuk D.A.; Gianfrancesco F. (2008)
    Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
    in Neurogenetics (Oxf., Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Liquori C.L.; Penco S.; Gault J.; Leedom T.P.; Tassi L.; Esposito T.; Awad I.A.; Frati L.; Johnson E.W.; Squitieri F.; Marchuk D.A.; Gianfrancesco F. (literal)
Pagina inizio
  • 25 (literal)
Pagina fine
  • 31 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 9 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 1 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA Department of Laboratory Medicine, Medical Genetics, A. O. Niguarda Ca' Granda Hospital, Milan, Italy Department of Neurosurgery, University of Colorado Health Sciences Center, Denver, CO, USA Department of Neuroscience, Regional Centre for Epilepsy Surgery; Niguarda Ca' Granda Hospital, Milan, Italy Institute of Genetics and Biophysics, \"Adriano Buzzati Traverso\", Italian National Research Council, Via Pietro Castellino, 111, 80131 Naples, Italy Neurogenetics Unit, IRCCS Neuromed, Localita' Camerelle, 86077 Pozzilli, Isernia, Italy Department of Neurological Surgery, Northwestern University Feinberg School of Medicine, Evanston Northwestern Healthcare, Evanston, IL, USA Department of Experimental Medicine, University La Sapienza, Rome, Italy Molecular Diagnostics and Biobanking, Prevention Genetics, Marshfield, WI, USA (literal)
Titolo
  • Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts (literal)
Abstract
  • Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in hemorrhagic stroke and seizures. Familial forms of CCM are inherited in an autosomal-dominant fashion, and three CCM genes have been identified. We recently determined that large genomic deletions in the CCM2 gene represent 22% of mutations in a large CCM cohort from the USA. In particular, a 77.6 kb deletion spanning CCM2 exons 2-10 displays an identical recombination event in eight CCM probands/families and appears to be common in the US population. In the current study, we report the identification of six additional probands/families from the USA with this same large deletion. Haplotype analysis strongly suggests that this common deletion derives from an ancestral founder. We also examined an Italian CCM cohort consisting of 24 probands/families who tested negative for mutations in the CCM1, CCM2, and CCM3 genes by DNA sequence analysis. Surprisingly, the common CCM2 deletion spanning exons 2-10 is not present in this population. Further analysis of the Italian cohort by multiplex ligation-dependent probe analysis identified a total of ten deletions and one duplication. The overall spectrum of genomic rearrangements in the Italian cohort is thus quite different than that seen in a US cohort. These results suggest that there are elements within all three of the CCM genes that predispose them to large deletion/duplication events but that the common deletion spanning CCM2 exons 2-10 appears to be specific to the US population due to a founder effect. (literal)
Prodotto di
Autore CNR
Insieme di parole chiave

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Insieme di parole chiave di
data.CNR.it