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2. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues

Author

Romano, Ferruccio, primary, Madia, Francesca, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Guerrisi, Sara, additional, Scala, Marcello, additional, Iacomino, Michele, additional, Baldassari, Simona, additional, Vercellino, Nadia, additional, Manunza, Francesca, additional, Tallone, Ramona, additional, Pavanello, Marco, additional, Piatelli, Gianluca, additional, Garaventa, Alberto, additional, Zara, Federico, additional, and Capra, Valeria, additional

Published
2022
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3. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Author

Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, de Man, Stella A., van Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska-Zietkiewicz, Beata S., Saris, Jasper J., Charlet-Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amelie, Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, de Man, Stella A., van Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska-Zietkiewicz, Beata S., Saris, Jasper J., Charlet-Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, and Piton, Amelie

Abstract

Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have been recently associated with a new neurodevelopmental disorder (NDD) with hypotonia, neurological features, and brain abnormalities. We investigated eight unrelated individuals by exome sequencing (ES) and identified seven novel pathogenic NOVA2 variants, including two with a novel localization at the KH1 and KH3 domains. In addition to a severe NDD phenotype, novel clinical features included psychomotor regression, attention deficit-hyperactivity disorder (ADHD), dyspraxia, and urogenital and endocrinological manifestations. To test the effect of the variants on splicing regulation, we transfected HeLa cells with wildtype and mutant NOVA2 complementary DNA (cDNA). The novel variants NM_002516.4:c.754_756delCTGinsTT p.(Leu252Phefs*144) and c.1329dup p.(Lys444Glnfs*82) all negatively affected AS events. The distal p.(Lys444Glnfs*82) variant, causing a partial removal of the KH3 domain, had a milder functional effect leading to an intermediate phenotype. Our findings expand the molecular and phenotypic spectrum of NOVA2-related NDD, supporting the pathogenic role of AS disruption by truncating variants and suggesting that this is a heterogeneous condition with variable clinical course.

Published
2022

5. Diagnostic implications of genetic copy number variation in epilepsy plus

Author

Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah, Zara, Federico, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, Zuffardi, Orsetta, EuroEPINOMICS-RES Consortium, and EpiCNV Consortium

Subjects
epilepsy genes, mental disorders, array CGH, Human medicine, SNP array, copy number variants
Abstract

OBJECTIVE: Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available. METHODS: We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had "epilepsy plus," defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy. RESULTS: Of 1097 patients remaining after genetic data quality control, 120 individuals (10.9%) carried at least one autosomal CNV classified as pathogenic; 19 individuals (1.7%) carried at least one autosomal CNV classified as possibly pathogenic. Eleven patients (1%) carried more than one (possibly) pathogenic CNV. We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. Comparing phenotypic features of pathogenic CNV carriers to those of noncarriers of pathogenic CNVs, we show that patients with nonneurological comorbidities, especially dysmorphism, were more likely to carry pathogenic CNVs (odds ratio = 4.09, confidence interval = 2.51-6.68; P = 2.34 × 10-9 ). Meta-analysis including data from published control groups showed that the presence or absence of epilepsy did not affect the detected frequency of CNVs. SIGNIFICANCE: The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large-scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes. ispartof: EPILEPSIA vol:60 issue:4 pages:689-706 ispartof: location:United States status: published

Published
2019

6. No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy

Author

Schulz, Herbert, Ruppert, Ann-Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, Vari, Maria S., Balagura, Ganna, Minetti, Carlo, Striano, Pasquale, Blanche, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Moller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J., Sander, Thomas, Schulz, Herbert, Ruppert, Ann-Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, Vari, Maria S., Balagura, Ganna, Minetti, Carlo, Striano, Pasquale, Blanche, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Moller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J., and Sander, Thomas

Abstract

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. In contrast, we found a uniform low average percentage of methylation (<4.5%) for 13 CpG76-CpGs in whole blood cells from 782 unrelated European Caucasians, including 116 JME patients, 196 patients with genetic absence epilepsies, and 470 control subjects. We also failed to confirm an allelic association of the BRD2 promoter single nucleotide polymorphism (SNP) rs3918149 with JME (Armitage trend test, P=0.98), and we did not detect a substantial impact of SNP rs3918149 on CpG76 methylation in either 116 JME patients (methylation quantitative trait loci [meQTL], P=0.29) or 470 German control subjects (meQTL, P=0.55). Our results do not support the previous observation that a high DNA methylation level of the BRD2 promoter CpG76 island is a prevalent epigenetic motif associated with JME in Caucasians.

Published
2019

7. No evidence for a BRD 2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

Author

Schulz, Herbert, primary, Ruppert, Ann‐Kathrin, additional, Zara, Federico, additional, Madia, Francesca, additional, Iacomino, Michele, additional, S. Vari, Maria, additional, Balagura, Ganna, additional, Minetti, Carlo, additional, Striano, Pasquale, additional, Bianchi, Amedeo, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Weber, Yvonne G., additional, Becker, Felicitas, additional, Lerche, Holger, additional, Kapser, Claudia, additional, Schankin, Christoph J., additional, Kunz, Wolfram S., additional, Møller, Rikke S., additional, Oliver, Karen L., additional, Bellows, Susannah T., additional, Mullen, Saul A., additional, Berkovic, Samuel F., additional, Scheffer, Ingrid E., additional, Caglayan, Hande, additional, Ozbek, Ugur, additional, Hoffmann, Per, additional, Schramm, Sara, additional, Tsortouktzidis, Despina, additional, Becker, Albert J., additional, and Sander, Thomas, additional

Published
2019
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11. pSTAT1, pSTAT3, and T‐bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathy

Author

Madia, Francesca, primary, Frisullo, Giovanni, additional, Nociti, Viviana, additional, Conte, Amelia, additional, Luigetti, Marco, additional, Grande, Alessandra Del, additional, Patanella, Agata Katia, additional, Iorio, Raffaele, additional, Tonali, Pietro Attilio, additional, Batocchi, Anna Paola, additional, and Sabatelli, Mario, additional

Published
2009
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14. Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype?Phenotype Correlations

Author

Striano, Pasquale, primary, Mancardi, Maria Margherita, additional, Biancheri, Roberta, additional, Madia, Francesca, additional, Gennaro, Elena, additional, Paravidino, Roberta, additional, Beccaria, Francesca, additional, Capovilla, Giuseppe, additional, Bernardina, Bernardo Dalla, additional, Darra, Francesca, additional, Elia, Maurizio, additional, Giordano, Lucio, additional, Gobbi, Giuseppe, additional, Granata, Tiziana, additional, Ragona, Francesca, additional, Guerrini, Renzo, additional, Marini, Carla, additional, Mei, Davide, additional, Longaretti, Francesca, additional, Romeo, Antonino, additional, Siri, Laura, additional, Specchio, Nicola, additional, Vigevano, Federico, additional, Striano, Salvatore, additional, Tortora, Fabio, additional, Rossi, Andrea, additional, Minetti, Carlo, additional, Dravet, Charlotte, additional, Gaggero, Roberto, additional, and Zara, Federico, additional

Published
2007
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15. Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Author

Margherita Mancardi, Maria, primary, Striano, Pasquale, additional, Gennaro, Elena, additional, Madia, Francesca, additional, Paravidino, Roberta, additional, Scapolan, Sara, additional, Dalla Bernardina, Bernardo, additional, Bertini, Enrico, additional, Bianchi, Amedeo, additional, Capovilla, Giuseppe, additional, Darra, Francesca, additional, Elia, Maurizio, additional, Freri, Elena, additional, Gobbi, Giuseppe, additional, Granata, Tiziana, additional, Guerrini, Renzo, additional, Pantaleoni, Chiara, additional, Parmeggiani, Antonia, additional, Romeo, Antonino, additional, Santucci, Margherita, additional, Vecchi, Marilena, additional, Veggiotti, Pierangelo, additional, Vigevano, Federico, additional, Pistorio, Angela, additional, Gaggero, Roberto, additional, and Zara, Federico, additional

Published
2006
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16. Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families

Author

Striano, Pasquale, primary, Lispi, Maria Luisa, additional, Gennaro, Elena, additional, Madia, Francesca, additional, Traverso, Monica, additional, Bordo, Laura, additional, Aridon, Paolo, additional, Boneschi, Filippo Martinelli, additional, Barone, Baldassare, additional, Bernardina, Bernardo dalla, additional, Bianchi, Amedeo, additional, Capovilla, Giuseppe, additional, De Marco, Pasquale, additional, Dulac, Olivier, additional, Gaggero, Roberto, additional, Gambardella, Antonio, additional, Nabbout, Rima, additional, Prud'homme, Jean-Francois, additional, Day, Ruth, additional, Vanadia, Francesca, additional, Vecchi, Marilena, additional, Veggiotti, Pierangelo, additional, Vigevano, Federico, additional, Viri, Maurizio, additional, Minetti, Carlo, additional, and Zara, Federico, additional

Published
2006
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17. Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

Author

Franceschetti, Silvana, primary, Gambardella, Antonio, additional, Canafoglia, Laura, additional, Striano, Pasquale, additional, Lohi, Hannes, additional, Gennaro, Elena, additional, Ianzano, Leonarda, additional, Veggiotti, Pierangelo, additional, Sofia, Vito, additional, Biondi, Roberto, additional, Striano, Salvatore, additional, Gellera, Cinzia, additional, Annesi, Grazia, additional, Madia, Francesca, additional, Civitelli, Donata, additional, Rocca, Francesca E., additional, Quattrone, Aldo, additional, Avanzini, Giuliano, additional, Minassian, Berge, additional, and Zara, Federico, additional

Published
2006
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20. Familial severe myoclonic epilepsy of infancy: truncation of Na v 1.1 and genetic heterogeneity

Author

Gennaro, Elena, primary, Veggiotti, Pierangelo, additional, Malacarne, Michele, additional, Madia, Francesca, additional, Cecconi, Massimiliano, additional, Cardinali, Simonetta, additional, Cassetti, Alessandra, additional, Cecconi, Ilaria, additional, Bertini, Enrico, additional, Bianchi, Amedeo, additional, Gobbi, Giuseppe, additional, and Zara, Federico, additional

Published
2003
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21. Lack of SCN1A Mutations in Familial Febrile Seizures

Author

Malacarne, Michela, primary, Madia, Francesca, additional, Gennaro, Elena, additional, Vacca, Daniela, additional, Güney, A. Ilter, additional, Buono, Salvatore, additional, Bernardina, Bernardo Dalla, additional, Gaggero, Roberto, additional, Gobbi, Giuseppe, additional, Lispi, Maria Luisa, additional, Malamaci, Daniela, additional, Melideo, Giustino, additional, Roccella, Maurizio, additional, Sferro, Caterina, additional, Tiberti, Alessandra, additional, Vanadia, Francesca, additional, Vigevano, Federico, additional, Viri, Franco, additional, Vitali, Maria Rosa, additional, Bricarelli, Franca Dagna, additional, Bianchi, Amedeo, additional, and Zara, Federico, additional

Published
2002
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22. Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Author

Biancotto G, Rosti G, Madia F, Capra V, Scala M, Aleo E, and Paladini D

Subjects
Humans, Female, Pregnancy, Adult, Ultrasonography, Prenatal, Exome Sequencing, Bone Diseases, Developmental genetics, Bone Diseases, Developmental diagnosis, Bone Diseases, Developmental diagnostic imaging, Multienzyme Complexes, Sulfate Adenylyltransferase genetics
Abstract

Brachyolmia is a rare form of skeletal dysplasia characterized by a wide genetic and clinical heterogeneity. This condition is usually diagnosed postnatally, and very few cases of prenatal diagnosis have been described so far. Here, we report a case of a pregnant woman at 20 weeks' gestation referred to our center because of fetal short long bones. On targeted ultrasound, mild bowing of the femurs and fibulae and mild micrognathia were also observed. Exome sequencing analysis showed the presence in compound heterozygosity of two pathogenic variants-both truncating variants-in the 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 (PAPSS2) gene, known to cause brachyolmia type 4 (OMIM #612847). Of note, all of the few cases reported prenatally have indeed truncating variants. Hence, we speculate this kind of variant is likely responsible for a complete loss of function of the protein leading to an earlier and more severe phenotype., (© 2024 John Wiley & Sons Ltd.)

Published
2024
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23. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

Author

Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, and Zara F

Subjects
Adolescent, Adult, Age of Onset, Child, Child, Preschool, DNA genetics, Developmental Disabilities complications, Electroencephalography, Female, Humans, Infant, Male, Mutation genetics, Myoclonic Epilepsy, Juvenile physiopathology, NAV1.1 Voltage-Gated Sodium Channel, Pedigree, Polymorphism, Genetic genetics, Receptors, GABA-A genetics, Receptors, GABA-B genetics, Genetic Heterogeneity, Myoclonic Epilepsy, Juvenile genetics, Nerve Tissue Proteins genetics, Sodium Channels genetics
Abstract

Background: Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome has been long suspected of having a genetic origin. Recently, mutations in SCN1A and GABRG2 have been described in SMEI patients. The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype correlations. In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome., Methods: Clinical criteria followed the international classification of epileptic syndromes. Mutational screening of SCN1A and GABRG2 genes was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing of DNA fragments showing a variant chromatogram., Results: Thirty-eight fragments spanning 26 exons of SCN1A and nine exons of GABRG2 were analysed in three probands. Five variant chromatograms were identified; four corresponded to known polymorphisms, one to a novel dinucleotide insertion on exon 26 of SCN1A. The mutation leads to a frameshift and a premature stop codon at amino acid 1 779 of the protein. The mutation was present in the affected sibling and was inherited from the mother who had experienced a single febrile seizure in childhood., Conclusions: Among three families analysed, a single family was mutant for SCN1A. Our study suggests that the syndrome is genetically heterogeneous. The variable expressivity we observed for the c5240insAA mutation suggests that other factors are needed for the development of the full SMEI phenotype.

Published
2003

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