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1. European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Author

Bloomfield, Madeleine, primary, Lautarescu, Alexandra, additional, Heraty, Síofra, additional, Douglas, Sarah, additional, Violland, Pierre, additional, Plas, Roderik, additional, Ghosh, Anjuli, additional, Van den Bosch, Katrien, additional, Eaton, Eliza, additional, Absoud, Michael, additional, Battini, Roberta, additional, Blázquez Hinojosa, Ana, additional, Bolshakova, Nadia, additional, Bölte, Sven, additional, Bonanni, Paolo, additional, Borg, Jacqueline, additional, Calderoni, Sara, additional, Calvo Escalona, Rosa, additional, Castelo-Branco, Miguel, additional, Castro-Fornieles, Josefina, additional, Caro, Pilar, additional, Cliquet, Freddy, additional, Danieli, Alberto, additional, Delorme, Richard, additional, Elia, Maurizio, additional, Hempel, Maja, additional, Leblond, Claire S, additional, Madeira, Nuno, additional, McAlonan, Grainne, additional, Milone, Roberta, additional, Molloy, Ciara J, additional, Mouga, Susana, additional, Montiel, Virginia, additional, Pina Rodrigues, Ana, additional, Schaaf, Christian P, additional, Serrano, Mercedes, additional, Tammimies, Kristiina, additional, Tye, Charlotte, additional, Vigevano, Federico, additional, Oliveira, Guiomar, additional, Mazzone, Beatrice, additional, O’Neill, Cara, additional, Pender, Julie, additional, Romero, Verena, additional, Tillmann, Julian, additional, Oakley, Bethany, additional, Murphy, Declan G M, additional, Gallagher, Louise, additional, Bourgeron, Thomas, additional, Chatham, Christopher, additional, and Charman, Tony, additional

Published
2024
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2. European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Author

Bloomfield, Madeleine, primary, Lautarescu, Alexandra, additional, Heraty, Siofra, additional, Douglas, Sarah, additional, Violland, Pierre, additional, Plas, Roderik, additional, Ghosh, Anjuli, additional, Van den Bosch, Katrien, additional, Eaton, Eliza, additional, Absoud, Michael, additional, Battini, Roberta, additional, Blazquez Hinojosa, Ana, additional, Bolshakova, Nadia, additional, Bolte, Sven, additional, Bonanni, Paolo, additional, Borg, Jacqueline, additional, Calderoni, Sara, additional, Calvo Escalona, Rosa, additional, Castelo-Branco, Miguel, additional, Castro-Fornieles, Josefina, additional, Caro, Pilar, additional, Danieli, Alberto, additional, Delorme, Richard, additional, Elia, Maurizio, additional, Hempel, Maja, additional, Madeira, Nuno, additional, McAlonan, Grainne, additional, Milone, Roberta, additional, Molloy, Ciara J, additional, Mouga, Susana, additional, Montiel, Virginia, additional, Pina Rodrigues, Ana, additional, Schaaf, Christian P, additional, Serrano, Mercedes, additional, Tammimies, Kristiina, additional, Tye, Charlotte, additional, Vigevano, Federico, additional, Oliveira, Guiomar, additional, Mazzone, Beatrice, additional, O'Neill, Cara, additional, Romero, Verena, additional, Tillmann, Julian, additional, Oakley, Bethany, additional, Murphy, Declan, additional, Gallagher, Louise, additional, Bourgeron, Thomas, additional, Chatham, Christopher, additional, and Charman, Tony, additional

Published
2023
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3. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Author

Peluso, Francesca, primary, Caraffi, Stefano G, additional, Contrò, Gianluca, additional, Valeri, Lara, additional, Napoli, Manuela, additional, Carboni, Giorgia, additional, Seth, Alka, additional, Zuntini, Roberta, additional, Coccia, Emanuele, additional, Astrea, Guja, additional, Bisgaard, Anne-Marie, additional, Ivanovski, Ivan, additional, Maitz, Silvia, additional, Brischoux-Boucher, Elise, additional, Carter, Melissa T, additional, Dentici, Maria Lisa, additional, Devriendt, Koenraad, additional, Bellini, Melissa, additional, Digilio, Maria Cristina, additional, Doja, Asif, additional, Dyment, David A, additional, Farholt, Stense, additional, Ferreira, Carlos R, additional, Wolfe, Lynne A, additional, Gahl, William A, additional, Gnazzo, Maria, additional, Goel, Himanshu, additional, Grønborg, Sabine Weller, additional, Hammer, Trine, additional, Iughetti, Lorenzo, additional, Kleefstra, Tjitske, additional, Koolen, David A, additional, Lepri, Francesca Romana, additional, Lemire, Gabrielle, additional, Louro, Pedro, additional, McCullagh, Gary, additional, Madeo, Simona F, additional, Milone, Annarita, additional, Milone, Roberta, additional, Nielsen, Jens Erik Klint, additional, Novelli, Antonio, additional, Ockeloen, Charlotte W., additional, Pascarella, Rosario, additional, Pippucci, Tommaso, additional, Ricca, Ivana, additional, Robertson, Stephen P, additional, Sawyer, Sarah, additional, Falkenberg Smeland, Marie, additional, Stegmann, Sander, additional, Stumpel, Constanze T, additional, Goel, Amy, additional, Taylor, Juliet M, additional, Barbuti, Domenico, additional, Soresina, Annarosa, additional, Bedeschi, Maria Francesca, additional, Battini, Roberta, additional, Cavalli, Anna, additional, Fusco, Carlo, additional, Iascone, Maria, additional, Van Maldergem, Lionel, additional, Venkateswaran, Sunita, additional, Zuffardi, Orsetta, additional, Vergano, Samantha, additional, Garavelli, Livia, additional, and Bayat, Allan, additional

Published
2023
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8. Expanding theKIF4A‐associated phenotype

Author

Kalantari, Silvia, primary, Carlston, Colleen, additional, Alsaleh, Norah, additional, Abdel‐Salam, Ghada M. H., additional, Alkuraya, Fowzan, additional, Kato, Mitsuhiro, additional, Matsumoto, Naomichi, additional, Miyatake, Satoko, additional, Yamamoto, Tatsuya, additional, Fares‐Taie, Lucas, additional, Rozet, Jean‐Michel, additional, Chassaing, Nicolas, additional, Vincent‐Delorme, Catherine, additional, Kang‐Bellin, Anjeung, additional, McWalter, Kirsty, additional, Bupp, Caleb, additional, Palen, Emily, additional, Wagner, Monisa D., additional, Niceta, Marcello, additional, Cesario, Claudia, additional, Milone, Roberta, additional, Kaplan, Julie, additional, Wadman, Erin, additional, Dobyns, William B., additional, and Filges, Isabel, additional

Published
2021
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12. Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

Author

Milone, Roberta, primary, Cesario, Claudia, primary, Goldoni, Marina, additional, Pasquariello, Rosa, additional, Fusilli, Caterina, additional, Giovannetti, Agnese, additional, Giglio, Sabrina, additional, Novelli, Antonio, additional, Caputo, Viviana, additional, Cioni, Giovanni, additional, Mazza, Tommaso, additional, Battaglia, Agatino, additional, Bernardini, Laura, additional, and Battini, Roberta, additional

Published
2020
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16. Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review.

Author

Vecchia, Stefania Della, Milone, Roberta, Cagiano, Romina, Calderoni, Sara, Santocchi, Elisa, Pasquariello, Rosa, Battini, Roberta, and Muratori, Filippo

Subjects
DISEASES in girls, AUTISM spectrum disorders in children, APNEA, FACIAL abnormalities, SHORT stature, PATHOLOGICAL psychology
Abstract

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD. [ABSTRACT FROM AUTHOR]

Published
2021
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18. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Author

D'Amore, Angelica, primary, Tessa, Alessandra, additional, Casali, Carlo, additional, Dotti, Maria Teresa, additional, Filla, Alessandro, additional, Silvestri, Gabriella, additional, Antenora, Antonella, additional, Astrea, Guja, additional, Barghigiani, Melissa, additional, Battini, Roberta, additional, Battisti, Carla, additional, Bruno, Irene, additional, Cereda, Cristina, additional, Dato, Clemente, additional, Di Iorio, Giuseppe, additional, Donadio, Vincenzo, additional, Felicori, Monica, additional, Fini, Nicola, additional, Fiorillo, Chiara, additional, Gallone, Salvatore, additional, Gemignani, Federica, additional, Gigli, Gian Luigi, additional, Graziano, Claudio, additional, Guerrini, Renzo, additional, Gurrieri, Fiorella, additional, Kariminejad, Ariana, additional, Lieto, Maria, additional, Marques LourenḈo, Charles, additional, Malandrini, Alessandro, additional, Mandich, Paola, additional, Marcotulli, Christian, additional, Mari, Francesco, additional, Massacesi, Luca, additional, Melone, Maria A. B., additional, Mignarri, Andrea, additional, Milone, Roberta, additional, Musumeci, Olimpia, additional, Pegoraro, Elena, additional, Perna, Alessia, additional, Petrucci, Antonio, additional, Pini, Antonella, additional, Pochiero, Francesca, additional, Pons, Maria Roser, additional, Ricca, Ivana, additional, Rossi, Salvatore, additional, Seri, Marco, additional, Stanzial, Franco, additional, Tinelli, Francesca, additional, Toscano, Antonio, additional, Valente, Mariarosaria, additional, Federico, Antonio, additional, Rubegni, Anna, additional, and Santorelli, Filippo Maria, additional

Published
2018
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20. Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1 -Related Encephalopathy.

Author

Milone, Roberta, Aiello, Chiara, Pasquariello, Rosa, Rubegni, Anna, Santorelli, Filippo Maria, Battini, Roberta, and Bertini, Enrico

Subjects
BRAIN abnormalities, HEREDITARY central nervous system demyelinating diseases, GENETIC mutation, BRAIN diseases, GENETIC disorders, DIFFERENTIAL diagnosis, MICROCEPHALY, DISEASE relapse, NEURAL development, MUSCLE hypotonia, CHILD psychopathology, PEROXISOMAL disorders, CEREBRAL cortex abnormalities, INBORN errors of metabolism, BRAIN stem, NEURODEGENERATION, SYMPTOMS
Abstract

PRUNE1 -related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system. Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term "microcephaly" in defining this disorder that could be renamed "neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies" (NPEHBA). [ABSTRACT FROM AUTHOR]

Published
2021
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25. Synthetic Response of Stimulated Respiratory Epithelium Modulation by Prednisolone and iKK2 Inhibition

Author

Woodman, Lucy Bianca, Wan, Wing Yan Heidi, Milone, Roberta, Grace, Ken, Sousa, Ana, Williamson, Rick, and Brightling, Christopher Edward

Abstract

BackgroundThe airway epithelium plays a central role in wound repair and host defense and is implicated in the immunopathogenesis of asthma. Whether there are intrinsic differences between the synthetic capacity of epithelial cells derived from subjects with asthma and healthy control subjects and how this mediator release is modulated by antiinflammatory therapy remains uncertain. We sought to examine the synthetic function of epithelial cells from different locations in the airway tree from subjects with and without asthma and to determine the effects of antiinflammatory therapies upon this synthetic capacity.MethodsPrimary epithelial cells were derived from 17 subjects with asthma and 16 control subjects. The release of 13 cytokines and chemokines from nasal, bronchial basal, and air-liquid interface differentiated epithelial cells before and after stimulation with IL-1β, IL-1β and interferon-γ, or Poly-IC (Toll-like receptor 3 agonist) was measured using MesoScale discovery or enzyme-linked immunosorbent assay, and the effects of prednisolone and an inhibitor of nuclear factor κ-B2 (IKK2i) were determined.ResultsThe pattern of release of cytokines and chemokines was significantly different between nasal, bronchial basal, and differentiated epithelial cells but not between health and disease. Stimulation of the epithelial cells caused marked upregulation of most mediators, which were broadly corticosteroid unresponsive but attenuated by IKK2i.ConclusionSynthetic capacity of primary airway epithelial cells varied between location and degree of differentiation but was not disease specific. Activation of epithelial cells by proinflammatory cytokines and toll-like receptor 3 agonism is attenuated by IKK2i, but not corticosteroids, suggesting that IKK2i may represent an important novel therapy for asthma.

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26. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Author

Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli, D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charle, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A B, Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria, D’Amore, Angelica, Teresa Dotti, Maria, DI IORIO, Giuseppe, Luigi Gigli, Gian, Marques LourenḈo, Charle, Melone, Mariarosa A. B., Roser Pons, Maria, and Maria Santorelli, Filippo

Subjects
0301 basic medicine, Cross-sectional study, Hereditary spastic paraplegia, In silico, Neurogenetics, Bioinformatics, medicine.disease_cause, DNA sequencing, lcsh:RC346-429, hereditary spastic paraplegia, next generation sequencing, neurogenetics, diagnostic yield, variants of unknown significance, 03 medical and health sciences, 0302 clinical medicine, Medicine, hereditary spastic paraplegia, neurogenetics, Gene, lcsh:Neurology. Diseases of the nervous system, variants of unknown significance, Original Research, neurogenetic, next generation sequencing, Mutation, Genetic heterogeneity, business.industry, medicine.disease, nervous system diseases, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, diagnostic yield, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity—there are over 80 potential disease-associated genes—and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy.

Published
2018

27. Expanding the KIF4A-associated phenotype.

Author

Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, and Filges I

Subjects
Abnormalities, Multiple pathology, Brain abnormalities, Brain pathology, Epilepsy genetics, Epilepsy pathology, Female, Genetic Association Studies, Humans, Intellectual Disability genetics, Intellectual Disability pathology, Male, Mutation, Missense genetics, Neurodevelopmental Disorders genetics, Neurodevelopmental Disorders pathology, Neurons metabolism, Neurons pathology, Phenotype, Urogenital Abnormalities pathology, Vesico-Ureteral Reflux pathology, Abnormalities, Multiple genetics, Brain metabolism, Kinesins genetics, Urogenital Abnormalities genetics, Vesico-Ureteral Reflux genetics
Abstract

Kinesin super family (KIF) genes encode motor kinesins, a family of evolutionary conserved proteins, involved in intracellular trafficking of various cargoes. These proteins are critical for various physiological processes including neuron function and survival, ciliary function and ciliogenesis, and cell-cycle progression. Recent evidence suggests that alterations in motor kinesin genes can lead to a variety of human diseases, including monogenic disorders. Neuropathies, impaired higher brain functions, structural brain abnormalities and multiple congenital anomalies (i.e., renal, urogenital, and limb anomalies) can result from pathogenic variants in many KIF genes. We expand the phenotype associated with KIF4A variants from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of phenotypic manifestations. Additional anomalies of the kidneys and urinary tract, congenital lymphedema, eye, and dental anomalies seem to be variably associated and overlap with clinical signs observed in other kinesinopathies. Caution still applies to missense variants, but hopefully, future work will further establish genotype-phenotype correlations in a larger number of patients and functional studies may give further insights into the complex function of KIF4A., (© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2021
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