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13 results on '"Spirito, Giovanni"'

6. Novel SYNGAP1Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing

Author

Rosti, Giulia, Boeri, Silvia, Divizia, Maria Teresa, Pisciotta, Livia, Mancardi, Maria Margherita, Lerone, Margherita, Cerminara, Maria, Servetti, Martina, Spirito, Giovanni, Vozzi, Diego, Fontana, Marco, Gustincich, Stefano, Nobili, Lino, Zara, Federico, and Puliti, Aldamaria

Abstract

Introduction:Nowadays, whole-exome sequencing (WES) analysis is an essential part in the diagnostic pathway of individuals with complex phenotypes when routine exams, such as array-CGH and gene panels, have proved inconclusive. However, data on the diagnostic rate of WES analysis in adult individuals, negative to first-tier tests, are lacking. This is because initiatives with the aim of diagnosing rare diseases focus mainly on pediatric unsolved cases. Case Presentation:We hereby present a 45-year-old woman with severe intellectual disability, previous psychomotor developmental delay, behavioral disorders, stereotypies, nonconvulsive epilepsy, and dysmorphisms. The proband first came to our attention when she was 4 years old (in 1982); since then, she has undergone several clinical and instrumental assessments, without reaching a genetic diagnosis. At last, through WES analysis, a novel de novo variant in SYNGAP1was found. The clinical characteristics associated with SYNGAP1are similar to those presented by the proband. Conclusion:The variant is predicted to be deleterious and is most probably the cause of the proband’s phenotype. The perseverance of the clinicians and the family allowed us to reach a diagnosis in a woman with a more than 30-year history of clinical evaluations, instrumental assessments, and genetic tests. This diagnosis was of significant relevance in genetic counseling for family members and the proband herself.

Published
2023
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8. Natural SINEUP RNAs in Autism Spectrum Disorders: RAB11B-AS1 Dysregulation in a Neuronal CHD8 Suppression Model Leads to RAB11B Protein Increase

Author

Zarantonello, Giulia, primary, Arnoldi, Michele, additional, Filosi, Michele, additional, Tebaldi, Toma, additional, Spirito, Giovanni, additional, Barbieri, Anna, additional, Gustincich, Stefano, additional, Sanges, Remo, additional, Domenici, Enrico, additional, Di Leva, Francesca, additional, and Biagioli, Marta, additional

Published
2021
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9. Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)

Author

Papa, Riccardo, Rusmini, Marta, Schena, Francesca, Traggiai, Elisabetta, Coccia, Maria Cristina, Caorsi, Roberta, Arrigo, Serena, Pasetti, Francesco, Signa, Sara, Barone, Patrizia, Santamaria, Giuseppe, Spirito, Giovanni, Sanges, Remo, Vozzi, Diego, Cavalli, Andrea, Gustincich, Stefano, Ravelli, Angelo, Gattorno, Marco, Ceccherini, Isabella, and Volpi, Stefano

Published
2021
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10. Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

Author

Cerminara, Maria, primary, Spirito, Giovanni, additional, Pisciotta, Livia, additional, Squillario, Margherita, additional, Servetti, Martina, additional, Divizia, Maria Teresa, additional, Lerone, Margherita, additional, Berloco, Bianca, additional, Boeri, Silvia, additional, Nobili, Lino, additional, Vozzi, Diego, additional, Sanges, Remo, additional, Gustincich, Stefano, additional, and Puliti, Aldamaria, additional

Published
2021
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12. Type I interferon signature in RALD mimicking inflammatory CVID

Author

Papa, Riccardo, marta rusmini, Signa, Sara, Coccia, Maria Cristina, Caorsi, Roberta, Schena, Francesca, Spirito, Giovanni, Sanges, Remo, Vozzi, Diego, Cavalli, Andrea, Gustincich, Stefano, Traggiai, Elisabetta, Ceccherini, Isabella, Gattorno, Marco, and Volpi, Stefano

13. Transposable element activation promotes neurodegeneration in a Drosophila model of Huntington's disease.

Author

Casale AM, Liguori F, Ansaloni F, Cappucci U, Finaurini S, Spirito G, Persichetti F, Sanges R, Gustincich S, and Piacentini L

Abstract

Huntington's disease (HD) is an autosomal dominant disorder with progressive motor dysfunction and cognitive decline. The disease is caused by a CAG repeat expansion in the IT15 gene, which elongates a polyglutamine stretch of the HD protein, Huntingtin. No therapeutic treatments are available, and new pharmacological targets are needed. Retrotransposons are transposable elements (TEs) that represent 40% and 30% of the human and Drosophila genomes and replicate through an RNA intermediate. Mounting evidence suggests that mammalian TEs are active during neurogenesis and may be involved in diseases of the nervous system. Here we show that TE expression and mobilization are increased in a Drosophila melanogaster HD model. By inhibiting TE mobilization with Reverse Transcriptase inhibitors, polyQ-dependent eye neurodegeneration and genome instability in larval brains are rescued and fly lifespan is increased. These results suggest that TE activation may be involved in polyQ-induced neurotoxicity and a potential pharmacological target., Competing Interests: The authors declare no competing interests., (© 2021 The Author(s).)

Published
2021
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