http://www.cnr.it/ontology/cnr/individuo/prodotto/ID26731
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (Articolo in rivista)
- Type
- Label
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (Articolo in rivista) (literal)
- Anno
- 2008-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1093/hmg/ddn031 (literal)
- Alternative label
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Cerrato F.; Sparago A.; Verde G.; De Crescenzo A.; Citro V.; Cubellis M.V.; Rinaldi M.M.; Boccuto L.; Neri G.; Magnani C.; D'Angelo P.; Collini P.; Perotti D.; Sebastio G.; Maher E.R.; Riccio A. (literal)
- Pagina inizio
- Pagina fine
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- Rivista
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- Note
- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- Dipartimento di Scienze Ambientali, Seconda Universita` di Napoli, via Vivaldi 43, 81100 Caserta, Italy, Institute of Genetics and Biophysics 'A. Buzzati Traverso', CNR, Naples, Italy,
Dipartimento di Biologia Strutturale e Funzionale and Dipartimento di Pediatria, Universita` di Napoli 'Federico II', Naples, Italy,
U.O.C. Genetica Medica, A.O.R.N.A. Cardarelli, Naples, Italy,
Institute of Medical Genetics , Universita` Cattolica del Sacro Cuore, Rome, Italy,
Dipartimento Materno-Infantile, Azienda Ospedale-Universita`, Parma, Italy,
Unit of Paediatric Hematology and Oncology, 'G. Di Cristina' Children Hospital, Palermo, Italy,
Department of Anatomic Pathology and Department of Experimental Oncology and Laboratories, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy and Medical and Molecular Genetics Section, University of Birmingham, The Medical School, Birmingham, UK (literal)
- Titolo
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (literal)
- Abstract
- The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1
(IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been
found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome
(BWS). These mutations result in the hypermethylation of the remaining IC1 region, loss of IGF2/H19 imprinting
and fully penetrant BWS phenotype when maternally transmitted. We now report that 12 additional cases
with IC1 hypermethylation have a similar clinical phenotype but showed neither a detectable deletion nor
other mutation in the local vicinity. Likewise, no IC1 deletion was detected in 40 sporadic non-syndromic
Wilms' tumours. A detailed analysis of the BWS patients showed that the hypermethylation variably affected
the IC1 region and was generally mosaic. We observed that all these cases were sporadic and in at least two
families affected and unaffected members shared the same maternal IC1 allele but not the abnormal maternal
chromosome epigenotype. Furthermore, the chromosome with the imprinting defect derived from either the
maternal grandfather or maternal grandmother. Overall, these results indicate that methylation-imprinting
defects at the IGF2-H19 locus can result from inherited mutations of the IC and have high recurrence risk
or arise independently from the sequence context and generally not transmitted to the progeny. Despite
these differences, the epigenetic abnormalities are usually present in the patients in the mosaic form and
probably acquired by post-zygotic de novo methylation. Distinguishing between these two groups of
cases is important for genetic counselling (literal)
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- Autore CNR
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