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Your search keyword '"Doneddu, Giuseppe"' showing total 16 results
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16 results on '"Doneddu, Giuseppe"'

10. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Author

Bacchelli, Elena, primary, Loi, Eleonora, additional, Cameli, Cinzia, additional, Moi, Loredana, additional, Vega Benedetti, Ana, additional, Blois, Sylvain, additional, Fadda, Antonio, additional, Bonora, Elena, additional, Mattu, Sandra, additional, Fadda, Roberta, additional, Chessa, Rita, additional, Maestrini, Elena, additional, Doneddu, Giuseppe, additional, and Zavattari, Patrizia, additional

Published
2019
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12. ELMOD3‐SH2D6 gene fusion as a possible co‐star actor in autism spectrum disorder scenario.

Author

Loi, Eleonora, Moi, Loredana, Blois, Sylvain, Bacchelli, Elena, Vega Benedetti, Ana Florencia, Cameli, Cinzia, Fadda, Roberta, Maestrini, Elena, Carta, Marinella, Doneddu, Giuseppe, and Zavattari, Patrizia

Subjects
AUTISM spectrum disorders, GENE fusion, DNA copy number variations, GENETIC regulation, CHIMERIC proteins, 22Q11 deletion syndrome
Abstract

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense‐mediated decay and might encode for a chimeric protein. In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. [ABSTRACT FROM AUTHOR]

Published
2020
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16. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Author

G. Doneddu, Eleonora Loi, Elena Bacchelli, Loredana Moi, Roberta Fadda, Antonio Fadda, Cinzia Cameli, Rita Chessa, Patrizia Zavattari, Elena Maestrini, Sandra Mattu, Ana Florencia Vega-Benedetti, Elena Bonora, Sylvain Blois, Bacchelli, Elena, Loi, Eleonora, Cameli, Cinzia, Moi, Loredana, Benedetti, Ana Florencia Vega, Blois, Sylvain, Fadda, Antonio, Bonora, Elena, Mattu, Sandra, Fadda, Roberta, Chessa, Rita, Maestrini, Elena, Doneddu, Giuseppe, and Zavattari, Patrizia

Subjects
Candidate gene, postsynaptic density proteins, lcsh:Medicine, Single-nucleotide polymorphism, autism spectrum disorder, ASD, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Missense mutation, Medicine, Copy-number variation, Gene, Loss function, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, lcsh:R, General Medicine, PSD proteins, CAPG, VDAC3, business, 030217 neurology & neurosurgery, PSD protein
Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identify novel genetic alterations associated with this disorder. Single nucleotide polymorphism (SNP) array data revealed a rare microdeletion involving CAPG, ELMOD3, and SH2D6 genes, in both siblings. CAPG encodes for a postsynaptic density (PSD) protein known to regulate spine morphogenesis and synaptic formation. The reduced CAPG mRNA and protein expression levels in ASD patients, in the presence of hemizygosity or a particular genetic and/or epigenetic background, highlighted the functional relevance of CAPG as a candidate gene for ASD. WES analysis led to the identification in both affected siblings of a rare frameshift mutation in VDAC3, a gene intolerant to loss of function mutation, encoding for a voltage-dependent anion channel localized on PSD. Moreover, four missense damaging variants were identified in genes intolerant to loss of function variation encoding for PSD proteins: PLXNA2, KCTD16, ARHGAP21, and SLC4A1. This study identifies CAPG and VDAC3 as candidate genes and provides additional support for genes encoding PSD proteins in ASD susceptibility.

Published
2019

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