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2. ETV4 plays a role on the primary events during the adenoma-adenocarcinoma progression in colorectal cancer

Author

Fonseca, Aline Simoneti, Ramão, Anelisa, Bürger, Matheus Carvalho, de Souza, Jorge Estefano Santana, Zanette, Dalila Lucíola, de Molfetta, Greice Andreotti, de Araújo, Luiza Ferreira, de Barros e Lima Bueno, Rafaela, Aguiar, Graziela Moura, Plaça, Jessica Rodrigues, Alves, Cleidson de Pádua, dos Santos, Anemari Ramos Dinarte, Vidal, Daniel Onofre, Silva, Gyl Eanes Barros, Panepucci, Rodrigo Alexandre, Peria, Fernanda Maris, Feres, Omar, da Rocha, José Joaquim Ribeiro, Zago, Marco Antonio, and Silva, Jr, Wilson Araújo

Published
2021
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3. mRNA Expression and Methylation of the RAD51 , ATM , ATR , BRCA1 , and BRCA2 Genes in Gastric Adenocarcinoma.

Author

Pádua, Joel Del Bel, Mariano, Carolline Fontes Alves, Fabro, Alexandre Todorovic, Lizarte Neto, Fermino Sanches, Zuliani, Rogério Lenotti, Sares, Cláudia Tarcila Gomes, Santos, José Sebastião dos, Sankarankutty, Ajith Kumar, Tirapelli, Daniela Pretti da Cunha, Silveira, Vanessa da Silva, Molfetta, Greice Andreotti de, Júnior, Wilson Araújo da Silva, and Brunaldi, Mariângela Ottoboni

Subjects
GENE expression, BRCA genes, METHYLATION, AUTOMATED teller machines, NEOADJUVANT chemotherapy, P16 gene
Abstract

Background: Immunohistochemical prognostic significance of the homologous recombination-related proteins RAD51, ATM, BRCA1, and BRCA2 is known in gastric adenocarcinoma, one of the deadliest cancers. Objective and design: This retrospective cohort study aimed to evaluate mRNA expression and promoter methylation of some homologous recombination-related genes in this neoplasm. Methods: We evaluated mRNA expression and methylation of RAD51, ATM, ATR, BRCA1, and BRCA2 in tumor and non-tumor frozen samples from gastrectomy specimens by RT-qPCR and MS-HRM, correlating our results with previous immunohistochemistry data and prognostic features. Results: RAD51, ATR, BRCA1, BRCA2, and ATM mRNA expression was detected in 93.75% (45/48), 93.75% (45/48), 91.67% (44/48), 83.33% (40/48), and 89.58% (43/48) of the tumors; partial or complete methylation, in 94.87% (37/39), 0 (0/42), 97.56% (40/41), 100% (41/41), and 0 (0/40), respectively. Most gene pairs showed significant weak to moderate positive correlations of tumoral mRNA expression with each other: RAD51 with ATR (P =.027), BRCA1 (P <.001), and BRCA2 (P <.001); ATR with BRCA1 (P =.007), and ATM (P =.001); BRCA1 with BRCA2 (P = 0.001). BRCA1 mRNA was reduced in tumors compared with non-neoplastic mucosa (0.345 vs 1.272, P =.015) and, excluding neoadjuvant therapy cases, in T3 to T4 tumors compared with T2 (0.414 vs 0.954, P =.035). Greater tumoral RAD51 mRNA levels correlated with perineural invasion (1.822 vs 0.725, P =.010) and death (1.664 vs 0.929, P =.036), but not with survival time. There was an inverse association between nuclear immunohistochemical positivity for ATR and its mRNA levels (0.487 vs 0.907, P =.032), and no significant correlation for the other markers. Conclusions: Our results suggest RAD51, BRCA1, and BRCA2 methylation as a frequent epigenetic mechanism in gastric cancer, support the hypothesis that reduced BRCA1 expression participates in disease progression, and show an association between RAD51 mRNA and perineural invasion and mortality that may be considered unexpected, considering the former immunohistochemical studies. The lack of correlation between immunohistochemistry and mRNA, and even the inverse association, for ATR, can be seen as indicative of action of post-transcriptional or post-translational regulatory mechanisms, to be better investigated. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Author

Margutti, Ana Vitoria Barban, Silva, Jr., Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, and Camelo, Jr., José Simon

Published
2020
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5. Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Author

da Costa e Silva Carvalho, Simone, Cury, Nathalia Moreno, Brotto, Danielle Barbosa, de Araujo, Luiza Ferreira, Rosa, Reginaldo Cruz Alves, Texeira, Lorena Alves, Plaça, Jessica Rodrigues, Marques, Adriana Aparecida, Peronni, Kamila Chagas, Ruy, Patricia de Cássia, Molfetta, Greice Andreotti, Moriguti, Julio Cesar, Carraro, Dirce Maria, Palmero, Edenir Inêz, Ashton-Prolla, Patricia, de Faria Ferraz, Victor Evangelista, and Silva Jr, Wilson Araujo

Published
2020
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6. Data from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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7. Supplementary Table 1b from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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8. Supplementary Figure 1 from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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9. Supplementary Table 2 from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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10. Supplementary Figure 3 from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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11. Supplementary Figure 2 from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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12. Supplementary Material from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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13. Supplementary Figure 4 from miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., primary, Plaça, Jessica Rodrigues, primary, de Araújo, Luíza Ferreira, primary, Sarshad, Aishe A., primary, Anastasakis, Dimitrios G., primary, Wang, Xiantao, primary, Li, Xiao Ling, primary, de Molfetta, Greice Andreotti, primary, Ramão, Anelisa, primary, Lal, Ashish, primary, Vidal, Daniel Onofre, primary, Hafner, Markus, primary, and Silva, Wilson A., primary

Published
2023
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15. Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1

Author

Moreira, Mariana Lima Mascarenhas, Araújo, Iana Mizumukai de, Molfetta, Greice Andreotti de, Silva Jr., Wilson Araújo, and Paula, Francisco José Albuquerque de

Abstract

SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be “stress fractures”. Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.

Published
2021

17. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

Author

De Molfetta Greice Andreotti, Felix Temis Maria, Riegel Mariluce, Ferraz Victor Evangelista de Faria, and Pina Neto João Monteiro de

Subjects
Angelman syndrome, Prader-Willi syndrome, imprinting defect, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

Published
2002

19. Additional file 1 of Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Author

Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, Molfetta, Greice Andreotti De, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Silva, Raquel Tavares Boy Da, Miura, Irene Kazue, Neto, João Seda, Santos, Emerson De Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, Souza, Carolina Fischinger Moura De, Schwartz, Ida Vanessa Döederlein, and Camelo, José Simon

Abstract

Additional file 1. Primers sequences, PCR conditions and amplified fragment sizes of the BCKDHA gene. Description of data: Primer location, primer sequences, Annealing Temperature and amplified fragment sizes (amplicon size) of the BCKDHA gene.

Published
2020
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20. Additional file 2 of Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Author

Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, Molfetta, Greice Andreotti De, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Silva, Raquel Tavares Boy Da, Miura, Irene Kazue, Neto, João Seda, Santos, Emerson De Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, Souza, Carolina Fischinger Moura De, Schwartz, Ida Vanessa Döederlein, and Camelo, José Simon

Abstract

Additional file 2. Primers sequences, PCR conditions and amplified fragment sizes of the BCKDHB gene. Description of data: Primer location, primer sequences, Annealing Temperature and amplified fragment sizes (amplicon size) of the BCKDHB gene.

Published
2020
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21. Additional file 3 of Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Author

Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, Molfetta, Greice Andreotti De, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Silva, Raquel Tavares Boy Da, Miura, Irene Kazue, Neto, João Seda, Santos, Emerson De Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, Souza, Carolina Fischinger Moura De, Schwartz, Ida Vanessa Döederlein, and Camelo, José Simon

Abstract

Additional file 3. Primers sequences, PCR conditions and amplified fragment sizes of the DBT gene. Description of data: Primer location, primer sequences, Annealing Temperature and amplified fragment sizes (amplicon size) of the DBT gene.

Published
2020
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22. Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

Author

Margutti, Ana Vitoria Barban, primary, Silva, Wilson Araújo, additional, Garcia, Daniel Fantozzi, additional, de Molfetta, Greice Andreotti, additional, Marques, Adriana Aparecida, additional, Amorim, Tatiana, additional, Prazeres, Vânia Mesquita Gadelha, additional, Silva, Raquel Tavares Boy da, additional, Miura, Irene Kazue, additional, Neto, João Seda, additional, Santos, Emerson de Santana, additional, Santos, Mara Lúcia Schmitz Ferreira, additional, Lourenço, Charles Marques, additional, Tonon, Tássia, additional, Sperb-Ludwig, Fernanda, additional, de Souza, Carolina Fischinger Moura, additional, Schwartz, Ida Vanessa Döederlein, additional, and Junior, José Simon Camelo, additional

Published
2020
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23. Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease&nbsp;

Author

Campanholi, Diana Ruffato Resende, primary, Margutti, Ana Vitoria Barban, additional, Silva, Wilson Araújo, additional, Garcia, Daniel Fantozzi, additional, Molfetta, Greice Andreotti de, additional, Marques, Adriana Aparecida, additional, Schwartz, Ida Vanessa Döederlein, additional, Cornejo, Veronica, additional, Hamilton, Valerie, additional, Castro, Gabriela, additional, Borges, Ester Simon, additional, and Junior, José Simon Camelo, additional

Published
2020
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24. The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

Author

Maciel, Léa Maria Zanini, primary, Magalhães, Patrícia Künzle Ribeiro, additional, Ciampo, Ieda Regina Lopes Del, additional, Sousa, Maria Luísa Barato de, additional, Fernandes, Maria Inez Machado, additional, Sawamura, Regina, additional, Bittar, Roberta Rodrigues, additional, Molfetta, Greice Andreotti de, additional, and Silva Júnior, Wilson Araújo da, additional

Published
2020
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25. Identification of Four New Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease and Genotype-Phenotype Correlations

Author

Campanholi, Diana Ruffato Resende, primary, Margutti, Ana Vitoria Barban, additional, Silva, Wilson Araújo, additional, Garcia, Daniel Fantozzi, additional, Molfetta, Greice Andreotti de, additional, Marques, Adriana Aparecida, additional, Schwartz, Ida Vanessa Döederlein, additional, Cornejo, Veronica, additional, Hamilton, Valerie, additional, Castro, Gabriela, additional, Borges, Ester Simon, additional, and Junior, José Simon Camelo, additional

Published
2019
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26. Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

Author

Margutti, Ana Vitoria Barban, primary, Silva, Wilson Araújo, additional, Garcia, Daniel Fantozzi, additional, de Molfetta, Greice Andreotti, additional, Marques, Adriana Aparecida, additional, Amorim, Tatiana, additional, Prazeres, Vânia Mesquita Gadelha, additional, Silva, Raquel Tavares Boy da, additional, Miura, Irene Kazue, additional, Neto, João Seda, additional, Santos, Emerson de Santana, additional, Santos, Mara Lúcia Schmitz Ferreira, additional, Lourenço, Charles Marques, additional, Tonon, Tássia, additional, Sperb-Ludwig, Fernanda, additional, de Souza, Carolina Fischinger Moura, additional, Schwartz, Ida Vanessa Döederlein, additional, and Junior, José Simon Camelo, additional

Published
2019
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27. 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

Author

De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, de Rosso Giuliani Liane, Maldonado Maria José, and Silva Wilson Araujo

Subjects
Angelman syndrome, UBE3A gene, Imprinting, Novel mutation, Distinct phenotypes, HRM, Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect. Case Presentation We here describe a novel UBE3A frameshift mutation in two siblings who have inherited it from their asymptomatic mother. Despite carrying the same UBE3A mutation, the proband shows a more severe phenotype whereas his sister shows a milder phenotype presenting the typical AS features. Conclusions We hypothesized that the mutation Leu125Stop causes both severe and milder phenotypes. Potential mechanisms include: i) maybe the proband has an additional problem (genetic or environmental) besides the UBE3A mutation; ii) since the two siblings have different fathers, the UBE3A mutation is interacting with a different genetic variant in the proband that, by itself, does not cause problems but in combination with the UBE3A mutation causes the severe phenotype; iii) this UBE3A mutation alone can cause either typical AS or the severe clinical picture seen in the proband.

Published
2012
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28. miR-450a Acts as a Tumor Suppressor in Ovarian Cancer by Regulating Energy Metabolism

Author

Muys, Bruna Rodrigues, primary, Sousa, Josane F., additional, Plaça, Jessica Rodrigues, additional, de Araújo, Luíza Ferreira, additional, Sarshad, Aishe A., additional, Anastasakis, Dimitrios G., additional, Wang, Xiantao, additional, Li, Xiao Ling, additional, de Molfetta, Greice Andreotti, additional, Ramão, Anelisa, additional, Lal, Ashish, additional, Vidal, Daniel Onofre, additional, Hafner, Markus, additional, and Silva, Wilson A., additional

Published
2019
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30. Highly expressed placental miRNAs control key biological processes in human cancer cell lines

Author

Vidal, Daniel Onofre, primary, Ramão, Anelisa, additional, Pinheiro, Daniel Guariz, additional, Muys, Bruna Rodrigues, additional, Lorenzi, Julio Cesar Cetrulo, additional, de Pádua Alves, Cleidson, additional, Zanette, Dalila Luciola, additional, de Molfetta, Greice Andreotti, additional, Duarte, Geraldo, additional, and Silva, Wilson Araújo, additional

Published
2018
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31. Placenta-Enriched LincRNAs MIR503HG and LINC00629 Decrease Migration and Invasion Potential of JEG-3 Cell Line

Author

Muys, Bruna Rodrigues, primary, Lorenzi, Júlio Cesar Cetrulo, additional, Zanette, Dalila Luciola, additional, Bueno, Rafaela de Barros Lima e, additional, Araújo, Luíza Ferreira de, additional, Dinarte-Santos, Anemari Ramos, additional, Alves, Cleidson Pádua, additional, Ramão, Anelisa, additional, Molfetta, Greice Andreotti de, additional, Vidal, Daniel Onofre, additional, and Silva, Wilson Araújo, additional

Published
2016
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32. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

Author

De Molfetta, Greice Andreotti, Felix, Temis Maria, Riegel, Mariluce, Ferraz, Victor Evangelista de Faria, and Pina Neto, João Monteiro de

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, síndrome de Prader-Willi, defeito no centro de imprinting, Angelman syndrome, imprinting defect, nutritional and metabolic diseases, síndrome de Angelman, Prader-Willi syndrome, nervous system diseases
Abstract

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity. A síndrome de Angelman (SA) e a síndrome de Prader-Willi (SPW) são doenças neurogenéticas distintas; entretanto, já foi observada sobreposição clínica entre essas duas patologias. Descrevemos mais um caso de um paciente apresentando o fenótipo da SPW e exames moleculares compatíveis com a SA. Apesar do fenótipo da SPW, o teste da metilação do DNA no gene SNRPN revelou padrão compatível com a SA. A análise citogenética e análise por FISH mostraram ambos os cromossomos 15 normais e a análise de polimorfismo de microssatélite mostrou heterozigozidade para marcadores dentro e fora da região 15q11-13. A presença destes casos atípicos pode ser mais freqüente que o esperado e salientamos que a análise da metilação do DNA é importante para o diagnóstico correto de deficiência mental, hipotonia congênita e obesidade.

Published
2002

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