La Torre A.,Laboratory of Oncology |
Muscarella L.A.,Laboratory of Oncology |
Parrella P.,Laboratory of Oncology |
Balsamo T.,Laboratory of Oncology |
And 11 more authors.
International Journal of Biological Markers | Year: 2012
Disturbances in the epigenetic landscape by aberrant methylation of CpG islands can lead to inactivation of cancer-related genes in solid tumors. We analyzed the promoter methylation status of 6 genes previously reported as cancer-specific methylated (MCAM, SSBP2, NISCH, B4GALT1, KIF1A and RASSF1A) in 38 neural crest-derived tumors by quantitative methylation- specific real-time PCR (QMSP). The results demonstrated that the determination of the methylation status of RASSF1A is able to distinguish between normal and tumor samples in cutaneous melanomas, lung carcinoids and small bowel carcinoids. MCAM methylation levels were significantly higher in lung carcinoids tumors (p=0.001), suggesting that this alteration may represent a molecular biomarker in this tumor type. © 2012 Wichtig Editore. Source
Migliore C.,Institute for Maternal and Child Health IRCCS Burlo Garofolo |
Athanasakis E.,Institute for Maternal and Child Health IRCCS Burlo Garofolo |
Dahoun S.,University of Geneva |
Wonkam A.,University of Cape Town |
And 11 more authors.
European Journal of Medical Genetics | Year: 2013
Opitz G/BBB Syndrome (OS) is a multiple congenital anomaly disorder characterized by developmental defects of midline structures. The most relevant clinical signs are ocular hypertelorism, hypospadias, cleft lip and palate, laryngo-tracheo-esophageal abnormalities, imperforate anus, and cardiac defects. Developmental delay, intellectual disability and brain abnormalities are also present. The X-linked form of this disorder is caused by mutations in the MID1 gene coding for a member of the tripartite motif family of E3 ubiquitin ligases. Here, we describe 12 novel patients that carry MID1 mutations emphasizing that laryngo-tracheo-esophageal defects are very common in OS patients and, together with hypertelorism and hypospadias, are the most frequent findings among the full spectrum of OS clinical manifestations. Besides missense and nonsense mutations, small insertions and deletions scattered along the entire length of the gene, we found that a consistent number of MID1 alterations are represented by the deletion of single coding exons. Deep characterization of one of these deletions reveals, for the first time within the MID1 gene, a complex rearrangement composed of two deletions, an inversion and a small insertion that may suggest the involvement of concurrent non-homologous mechanisms in the generation of the observed structural variant. © 2013 Elsevier Masson SAS. Source
De Andrade F.M.,Centro Universitario Feevale |
Bulhoes A.C.,Centro Universitario Feevale |
Maluf S.W.,Medical Genetic Service |
Schuch J.B.,Centro Universitario Feevale |
And 4 more authors.
Biochemical Genetics | Year: 2010
Nutrigenetics is a new field with few studies in Latin America. Our aim is to investigate the way in which different genes related to the lipid profile influence the response to specific dietary habits. Eight polymorphisms on seven genes were investigated in a sample (n = 567) from Porto Alegre, RS, Brazil. All the volunteers completed a food diary that was then assessed and classified into nine food groups. A number of nutrigenetic interactions were detected primarily related to the apolipoprotein E (apoE) gene. For example, frequent consumption of foods rich in polyuns aturated fat resulted in the beneficial effect of increasing HDL-C only in individuals who were not carriers of the E*4 allele of the APOE gene, whereas, ariations in eating habits of E*4 carriers did not affect their HDL-C (P = 0.018). Our data demonstrate for the first time nutrigenetic interactions in a Brazilian population. © 2010 Springer Science+Business Media, LLC. Source
Pini G.,Tuscany Rett Center Versilia Hospital |
Bigoni S.,Tuscany Rett Center Versilia Hospital |
Bigoni S.,University of Ferrara |
Engerstrom I.,Swedish Rett Center |
And 24 more authors.
Neuropediatrics | Year: 2012
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. Aims In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. Methods 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope. Results Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype. Conclusions The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant. Copyright © 2012 by Thieme Medical Publishers, Inc. Source
Muscarella L.A.,Laboratory of Oncology |
D'Agruma L.,Medical Genetic Service |
la Torre A.,Laboratory of Oncology |
Gigante M.,University of Foggia |
And 9 more authors.
International Journal of Biological Markers | Year: 2013
Clear cell renal cell carcinoma (ccRCC) is the most common malignant neoplasm of the kidney and belongs to the few human tumors known to develop from mutations of the VHL tumor suppressor gene. VHL germline mutations are associated with hereditary ccRCCs in VHL disease. However, somatic VHL gene defects may also occur in sporadic ccRCCs. In this study, we analyzed the frequency and the spectrum of VHL gene alterations in 35 Italian patients with sporadic renal cell carcinoma (RCC). Tumor-specific intragenic VHL pathogenic mutations were detected in 38% (11/29) of the ccRCC patients and 33% (2/6) of the patients with other types of RCC. One novel 18-bp in-tandem duplication and 4 previously unreported nucleotide changes in the VHL gene were described. Microsatellite analysis showed loss of heterozygosity for at least 1 informative marker in 43% (9/21) of the ccRCCs and 50% (3/6) of the non-ccRCCs; 5 of the 13 tumors (38%) harboring VHL gene alterations also had loss of heterozygosity for at least 1 microsatellite marker. Our results confirm that somatic inactivation of the VHL gene may play a pivotal role in the tumorigenesis of sporadic ccRCCs in Italian patients and suggests that mutation analysis of the VHL gene may be helpful for discriminating sporadic, VHL-gene-related ccRCCs from those related to VHL disease. © 2013 Wichtig Editore. Source