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Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients

Overview of attention for article published in Genetics and Molecular Biology, January 2012
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Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
Published in
Genetics and Molecular Biology, January 2012
DOI 10.1590/s1415-47572012005000073
Pubmed ID

Leila C.A. Cardoso, Jair A. Tenorio Castaño, Hanna S. Pereira, Maria Angélica de F.D. Lima, Anna Cláudia E. dos Santos, Paulo S. de Faria, Sima Ferman, Héctor N. Seuánez, Julián B. Nevado, José Carlos Cabral de Almeida, Pablo Lapunzina, Fernando R. Vargas


The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples: 16/34 with isolated HM DMRH19 and 12/34 with concomitant HM DMRH19 and KvDMR hypomethylation, indicating paternal uniparental disomy. With the exception of one blood sample, the MS-MLPA and pyrosequencing findings were concordant. Diffuse or focal anaplasia was present in five tumor samples and was associated with isolated somatic HM DMRH19 in four of them. Constitutional 11p15 methylation abnormalities were present in 5% of the samples and somatic abnormalities in the majority of tumors. Combined analysis of DMRH19/KvDMR by pyrosequencing and MS-MLPA is beneficial for characterizing epigenetic anomalies in WT, and MS-MLPA is useful and reliable for estimation of DNA methylation in a clinical setting.

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The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 1 4%
Unknown 25 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 15%
Student > Bachelor 3 12%
Professor 3 12%
Researcher 3 12%
Professor > Associate Professor 3 12%
Other 4 15%
Unknown 6 23%
Readers by discipline Count As %
Medicine and Dentistry 5 19%
Agricultural and Biological Sciences 3 12%
Biochemistry, Genetics and Molecular Biology 2 8%
Neuroscience 2 8%
Business, Management and Accounting 1 4%
Other 4 15%
Unknown 9 35%