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51. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Author

Ministerio de Sanidad (España), Sapienza Università di Roma, Piceci-Sparascio, Francesca, Micale, Lucía, Torres, Bárbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Darío, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Pérez, Victor L., Tartaglia, Marco, Castori, Marco, Luca, Alessandro De, Ministerio de Sanidad (España), Sapienza Università di Roma, Piceci-Sparascio, Francesca, Micale, Lucía, Torres, Bárbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Darío, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Pérez, Victor L., Tartaglia, Marco, Castori, Marco, and Luca, Alessandro De

Abstract

Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic patients and two monozygotic (MZ) twins. Clinical diagnoses included short rib-polydactyly type 3 in two cases, and asphyxiating thoracic dystrophy (ATD) in one case. Remarkably, clinical diagnosis fitted with EvC, mixed ATD/EvC and short rib-polydactyly/EvC phenotypes in three sporadic patients and the MZ twins. EvC/EvC-like features always occurred in compound heterozygotes sharing a previously unreported splice site change (c.6140-5A>G) or compound heterozygotes for two missense variants. These results expand the DYNC2H1 mutational repertoire and its clinical spectrum, suggesting that EvC may be occasionally caused by DYNC2H1 variants presumably acting as hypomorphic alleles.

Published
2023

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

Author

Peluso, Francesca; https://orcid.org/0000-0002-0976-1258, Caraffi, Stefano Giuseppe; https://orcid.org/0000-0002-5033-7854, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan; https://orcid.org/0000-0002-0113-783X, Maitz, Silvia, Brischoux-Boucher, Elise; https://orcid.org/0000-0002-4816-1431, Carter, Melissa T; https://orcid.org/0000-0001-7211-3731, Dentici, Maria Lisa; https://orcid.org/0000-0002-9505-5906, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Weller Grønborg, Sabine, Hammer, Trine, Iughetti, Lorenzo, et al, Peluso, Francesca; https://orcid.org/0000-0002-0976-1258, Caraffi, Stefano Giuseppe; https://orcid.org/0000-0002-5033-7854, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan; https://orcid.org/0000-0002-0113-783X, Maitz, Silvia, Brischoux-Boucher, Elise; https://orcid.org/0000-0002-4816-1431, Carter, Melissa T; https://orcid.org/0000-0001-7211-3731, Dentici, Maria Lisa; https://orcid.org/0000-0002-9505-5906, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Weller Grønborg, Sabine, Hammer, Trine, Iughetti, Lorenzo, and et al

Abstract

Background: KBG syndrome is caused by haploinsufficiency of ANKRD11and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined. Methods: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature. Results: We identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones. Conclusion: This cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects ofANKRD11variants in skeletal and brain development.

Published
2023

53. Genetics of Ebstein Anomaly

Author

Digilio, Maria Cristina, Silvestri, Lucia Martina, Dallapiccola, Bruno, Marino, Bruno, Giamberti, Alessandro, editor, and Chessa, Massimo, editor

Published
2014
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54. Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2Variant Associated with Overgrowth and Minor Neurodevelopmental Features

Author

Minotti, Chiara, Graziani, Ludovico, Micalizzi, Alessia, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Lanari, Valentina, Dallapiccola, Bruno, Novelli, Giuseppe, Novelli, Antonio, and Digilio, Maria Cristina

Abstract

Introduction:Shashi-Pena syndrome (SHAPNS) is a rare congenital disorder characterized by macrocephaly, delayed psychomotor development with intellectual disability, hypotonia, seizures, episodic hypoglycemia, distinct facial features, and glabellar nevus flammeus, caused by heterozygous variants of the ASXL2gene. Case Presentation:We report on a 15-year-old patient in care at our hospital since the age of 4 years presenting with minor neurodevelopmental problems, marked postnatal overgrowth without advanced bone age, and dental anomalies. Conclusion:Patients described in the literature with SHAPNS are reported indicating a broad spectrum of clinical manifestations. The present patient manifests an atypical presentation of SHAPNS due to a novel heterozygous ASXL2variant. This study supports the inclusion of SHAPNS in overgrowth disorders with macrocephaly, suggesting the analysis of the ASXL2gene even in suspected subjects with normal bone age and confirms dental anomalies as a clinical feature of this syndrome. SHAPNS could be inferred even in the absence of developmental delay or epilepsy.

Published
2024
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55. DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2DVUS and sensitivity in validating postzygotic mosaicism

Author

Niceta, Marcello, Ciolfi, Andrea, Ferilli, Marco, Pedace, Lucia, Cappelletti, Camilla, Nardini, Claudia, Hildonen, Mathis, Chiriatti, Luigi, Miele, Evelina, Dentici, Maria Lisa, Gnazzo, Maria, Cesario, Claudia, Pisaneschi, Elisa, Baban, Anwar, Novelli, Antonio, Maitz, Silvia, Selicorni, Angelo, Squeo, Gabriella Maria, Merla, Giuseppe, Dallapiccola, Bruno, Tumer, Zeynep, Digilio, Maria Cristina, Priolo, Manuela, and Tartaglia, Marco

Abstract

Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements of the lysine-specific methyltransferase 2D (KMT2D) gene. While it is often recognizable due to a distinctive gestalt, the disorder is clinically variable, and a phenotypic scoring system has been introduced to help clinicians to reach a clinical diagnosis. The phenotype, however, can be less pronounced in some patients, including those carrying postzygotic mutations. The full spectrum of pathogenic variation in KMT2Dhas not fully been characterized, which may hamper the clinical classification of a portion of these variants. DNA methylation (DNAm) profiling has successfully been used as a tool to classify variants in genes associated with several neurodevelopmental disorders, including KS. In this work, we applied a KS-specific DNAm signature in a cohort of 13 individuals with KMT2DVUS and clinical features suggestive or overlapping with KS. We succeeded in correctly classifying all the tested individuals, confirming diagnosis for three subjects and rejecting the pathogenic role of 10 VUS in the context of KS. In the latter group, exome sequencing allowed to identify the genetic cause underlying the disorder in three subjects. By testing five individuals with postzygotic pathogenic KMT2Dvariants, we also provide evidence that DNAm profiling has power to recognize pathogenic variants at different levels of mosaicism, identifying 15% as the minimum threshold for which DNAm profiling can be applied as an informative diagnostic tool in KS mosaics.

Published
2024
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56. Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Author

Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, and Tartaglia, Marco

Abstract

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERFand showing a phenotype reminiscent of NS. The majority of subjects presented with a variable degree of global developmental and/or language delay. Their shared facial features included absolute/relative macrocephaly, high forehead, hypertelorism, palpebral ptosis, wide nasal bridge, and low-set/posteriorly angulated ears. Stature was below the 3rd centile in two-third of the individuals, while no subject showed typical NS cardiac involvement. Notably, craniosynostosis was documented only in three unrelated individuals, while a dolichocephalic aspect of the skull in absence of any other evidence supporting a premature closing of sutures was observed in other 10 subjects. Unilateral Wilms tumor was diagnosed in one individual. Most cases were familial, indicating an overall low impact on fitness. Variants were nonsense and frameshift changes, supporting ERFhaploinsufficiency. These findings provide evidence that heterozygous loss-of-function variants in ERFcause a “RASopathy” resembling NS with or without craniosynostosis, and allow a first dissection of the molecular circuits contributing to MAPK signaling pleiotropy.

Published
2024
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58. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

Author

Pugnaloni, Flaminia, primary, Onesimo, Roberta, additional, Blandino, Rita, additional, Putotto, Carolina, additional, Versacci, Paolo, additional, Delogu, Angelica Bibiana, additional, Leoni, Chiara, additional, Trevisan, Valentina, additional, Croci, Ileana, additional, Calì, Federica, additional, Digilio, Maria Cristina, additional, Zampino, Giuseppe, additional, Marino, Bruno, additional, and Calcagni, Giulio, additional

Published
2023
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60. Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

Author

Ferilli, Marco, primary, Ciolfi, Andrea, additional, Pedace, Lucia, additional, Niceta, Marcello, additional, Radio, Francesca Clementina, additional, Pizzi, Simone, additional, Miele, Evelina, additional, Cappelletti, Camilla, additional, Mancini, Cecilia, additional, Galluccio, Tiziana, additional, Andreani, Marco, additional, Iascone, Maria, additional, Chiriatti, Luigi, additional, Novelli, Antonio, additional, Micalizzi, Alessia, additional, Matraxia, Marta, additional, Menale, Lucia, additional, Faletra, Flavio, additional, Prontera, Paolo, additional, Pilotta, Alba, additional, Bedeschi, Maria Francesca, additional, Capolino, Rossella, additional, Baban, Anwar, additional, Seri, Marco, additional, Mammì, Corrado, additional, Zampino, Giuseppe, additional, Digilio, Maria Cristina, additional, Dallapiccola, Bruno, additional, Priolo, Manuela, additional, and Tartaglia, Marco, additional

Published
2022
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61. Epilepsy in KBG syndrome

Author

Auconi, Marina, primary, Serino, Domenico, additional, Digilio, Maria Cristina, additional, Gnazzo, Maria, additional, Conti, Marta, additional, Vigevano, Federico, additional, and Fusco, Lucia, additional

Published
2022
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62. Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review

Author

Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria, Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, and Capra, Valeria

Subjects
Embryology, AHDC1, loss-of-function variant, Genotype, Xia-Gibbs syndrome, Health, Toxicology and Mutagenesis, DNA-Binding Protein, DNA repair, DNA, genotype-phenotype correlation, Toxicology, neurodevelopmental syndrome, Epigenesis, Genetic, Musculoskeletal Abnormalities, Phenotype, Intellectual Disability, Pediatrics, Perinatology and Child Health, Abnormalities, Multiple, Developmental Biology, Human
Abstract

Background Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, brain function, and neurodevelopment. AHDC1 variants possibly act through a dominant-negative mechanism and may interfere with DNA repair processes, leading to genome instability and impaired DNA translesion repair. Variants affecting residues closer to the N-terminal are thought to determine a milder phenotype with better cognitive performances. However, clean-cut genotype-phenotype correlations are still lacking. Cases In this study, we investigated five subjects with XGS in whom exome sequencing led to the identification of five novel de novo pathogenic variants in AHDC1. All variants were extremely rare and predicted to cause a loss of protein function. The phenotype of the reported patients included developmental delay, hypotonia, and distinctive facial dysmorphisms. Additionally, uncommon clinical features were observed, including congenital hypothyroidism and peculiar skeletal abnormalities. Conclusions In this study, we report uncommon XGS features associated with five novel truncating variants in AHDC, thus expanding the genotype and phenotypic spectrum of this complex condition. We also compared our cases to previously reported cases, discussing the current status of genotype-phenotype correlations in XGS.

Published
2022

66. Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

Author

Del Chierico, Federica, Marzano, Valeria, Scanu, Matteo, Reddel, Sofia, Dentici, Maria Lisa, Capolino, Rossella, Di Donato, Maddalena, Spasari, Iolanda, Fiscarelli, Ersilia Vita, Digilio, Maria Cristina, Abreu, Maria Teresa, Dallapiccola, Bruno, and Putignani, Lorenza

Subjects
WILLIAMS syndrome, GUT microbiome, SYMPTOMS, DYSBIOSIS, GROWTH disorders, BIFIDOBACTERIUM
Abstract

Williams–Beuren syndrome (WBS) is a multisystem genetic disease caused by the deletion of a region of 1.5–1.8 Mb on chromosome 7q11.23. The elastin gene seems to account for several comorbidities and distinct clinical features such including cardiovascular disease, connective tissue abnormalities, growth retardation, and gastrointestinal (GI) symptoms. Increasing evidence points to alterations in gut microbiota composition as a primary or secondary cause of some GI or extra-intestinal characteristics. In this study, we performed the first exploratory analysis of gut microbiota in WBS patients compared to healthy subjects (CTRLs) using 16S rRNA amplicon sequencing, by investigating the gut dysbiosis in relation to diseases and comorbidities. We found that patients with WBS have significant dysbiosis compared to age-matched CTRLs, characterized by an increase in proinflammatory bacteria such as Pseudomonas, Gluconacetobacter and Eggerthella, and a reduction of anti-inflammatory bacteria including Akkermansia and Bifidobacterium. Microbial biomarkers associated with weight gain, GI symptoms and hypertension were identified. Gut microbiota profiling could represent a new tool that characterise intestinal dysbiosis to complement the clinical management of these patients. In particular, the administration of microbial-based treatments, alongside traditional therapies, could help in reducing or preventing the burden of these symptoms and improve the quality of life of these patients. [ABSTRACT FROM AUTHOR]

Published
2023
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69. Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant

Author

Paparella, Roberto, primary, Caroleo, Anna Maria, additional, Agolini, Emanuele, additional, Chillemi, Giovanni, additional, Miele, Evelina, additional, Pedace, Lucia, additional, Rinelli, Martina, additional, Pizzi, Simone, additional, Boccuto, Luigi, additional, Colafati, Giovanna Stefania, additional, Lodi, Mariachiara, additional, Cacchione, Antonella, additional, Carai, Andrea, additional, Digilio, Maria Cristina, additional, Tomà, Paolo, additional, Tartaglia, Marco, additional, and Mastronuzzi, Angela, additional

Published
2022
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70. Cardiac Defects and Results of Cardiac Surgery in 22q11.2 Deletion Syndrome

Author

Carotti, Adriano, Digilio, Maria Cristina, and Piacentini, Gerardo

Abstract

Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect. These conotruncal heart defects are frequently associated in this syndrome with additional cardiovascular anomalies of the aortic arch, pulmonary arteries, infundibular septum, and semilunar valves complicating cardiac anatomy and surgical treatment. In this review we describe the surgical anatomy, the operative treatment, and the prognostic results of the cardiac defects associated with 22q11.2 deletion syndrome. According to the current literature, in patients with tetralogy of Fallot with/without pulmonary atresia and truncus arteriosus, in spite of the complex cardiac anatomy, the presence of 22q11.2 deletion syndrome does not worsen the surgical prognosis. On the contrary in children with pulmonary atresia with ventricular septal defect and probably in those with interrupted aortic arch the association with 22q11.2 deletion syndrome is probably a risk factor for the operative treatment. The complex cardiovascular anatomy in association with depressed immunological status, pulmonary vascular reactivity, neonatal hypocalcemia, bronchomalacia and broncospasm, laryngeal web, and tendency to airway bleeding must be considered at the time of diagnosis and surgical procedure. Specific diagnostic, surgical, and perioperative protocols should be applied in order to provide appropriate treatment and to reduce surgical mortality and morbidity.

Published
2008
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72. Epilepsy in KBG syndrome.

Author

Auconi, Marina, Serino, Domenico, Digilio, Maria Cristina, Gnazzo, Maria, Conti, Marta, Vigevano, Federico, and Fusco, Lucia

Subjects
EPILEPSY, SYNDROMES, AGE of onset, GENETIC mutation, PEOPLE with epilepsy, ELECTROENCEPHALOGRAPHY
Abstract

Aim: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy. Method: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome. Results: All detected genetic mutations were pathogenic and affected the C‐terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years. Interpretation: In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self‐limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work‐up of patients with KBG syndrome. What this paper adds: Some of the epilepsy types of KBG syndrome appear to be self‐remitting.The epilepsy phenotypes associated with KBG syndrome are quite variable. [ABSTRACT FROM AUTHOR]

Published
2023
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76. Expanding the novelMAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

Author

Vecchio, Davide, primary, Cocciadiferro, Dario, additional, Macchiaiolo, Marina, additional, Gonfiantini, Michaela Veronika, additional, Agolini, Emanuele, additional, Matraxia, Marta, additional, Carboni, Alessia, additional, Coretti, Antonella, additional, Villani, Andrea, additional, Panfili, Filippo Maria, additional, Dentici, Maria Lisa, additional, Buonuomo, Paola Sabrina, additional, Rana, Ippolita, additional, Colafati, Giovanna Stefania, additional, Digilio, Maria Cristina, additional, Novelli, Antonio, additional, and Bartuli, Andrea, additional

Published
2022
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78. Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature

Author

Mastromoro, Gioia, primary, Calcagni, Giulio, additional, Vignaroli, Walter, additional, Anaclerio, Silvia, additional, Pugnaloni, Flaminia, additional, Rinelli, Gabriele, additional, Secinaro, Aurelio, additional, Bordonaro, Veronica, additional, Putotto, Carolina, additional, Unolt, Marta, additional, Digilio, Maria Cristina, additional, Marino, Bruno, additional, and Versacci, Paolo, additional

Published
2022
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79. Poster PT Noonan REV 24 ago JPG

Author

Montanaro, Federica Alice Maria, Alfieri, Paolo, Caciolo, Cristina, Cumbo, Francesca, Tartaglia, Marco, Licchelli, Serena, Digilio, Maria Cristina, and Vicari, Stefano

Published
2022
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81. Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?

Author

Calcagni, Giulio, primary, Calvieri, Camilla, additional, Baban, Anwar, additional, Bianco, Francesco, additional, Barracano, Rosaria, additional, Caputo, Massimo, additional, Madrigali, Andrea, additional, Silva Kikina, Stefani, additional, Perrone, Marco Alfonso, additional, Digilio, Maria Cristina, additional, Pozzi, Marco, additional, Secinaro, Aurelio, additional, Sarubbi, Berardo, additional, Galletti, Lorenzo, additional, Gagliardi, Maria Giulia, additional, de Zorzi, Andrea, additional, Drago, Fabrizio, additional, and Leonardi, Benedetta, additional

Published
2022
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82. Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Author

Lodato, Valentina, primary, Parlapiano, Giovanni, additional, Calì, Federica, additional, Silvetti, Massimo Stefano, additional, Adorisio, Rachele, additional, Armando, Michela, additional, El Hachem, May, additional, Romanzo, Antonino, additional, Dionisi-Vici, Carlo, additional, Digilio, Maria Cristina, additional, Novelli, Antonio, additional, Drago, Fabrizio, additional, Raponi, Massimiliano, additional, and Baban, Anwar, additional

Published
2022
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83. Congenital heart defects in molecularly confirmed KBG syndrome patients

Author

Digilio, Maria Cristina, primary, Calcagni, Giulio, additional, Gnazzo, Maria, additional, Versacci, Paolo, additional, Dentici, Maria Lisa, additional, Capolino, Rossella, additional, Sinibaldi, Lorenzo, additional, Baban, Anwar, additional, Putotto, Carolina, additional, Alfieri, Paolo, additional, Unolt, Marta, additional, Lepri, Francesca R., additional, Alesi, Viola, additional, Genovese, Silvia, additional, Novelli, Antonio, additional, Marino, Bruno, additional, and Dallapiccola, Bruno, additional

Published
2021
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84. Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height

Author

Libraro, Annachiara, primary, D’Ascanio, Vito, additional, Cappa, Marco, additional, Chiarito, Mariangela, additional, Digilio, Maria Cristina, additional, Einaudi, Silvia, additional, Grandone, Anna, additional, Maghnie, Mohamad, additional, Mazzanti, Laura, additional, Mussa, Alessandro, additional, Patti, Giuseppa, additional, Scarano, Emanuela, additional, Spinuzza, Antonietta, additional, Vannelli, Silvia, additional, Wasniewska, Malgorzata Gabriela, additional, Ferrero, Giovanni Battista, additional, and Faienza, Maria Felicia, additional

Published
2021
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85. Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests

Author

Sinno, Martina, Ranesi, Marta, Iacomino, Giuseppina, Becchimanzi, Andrea, Barra, Eleonora, Molisso, Donata, Pennacchio, Francesco, Digilio, Maria Cristina, Vitale, Stefania, Turrà, David, Harizanova, Vili, Lorito, Matteo, and Woo, Sheridan Lois

Subjects
beneficial microbes, Botrytis cinerea, Alternaria alternata, Macrosiphum euphorbiae, Solanum lycopersicum, entomopathogenic fungi
Abstract

Endophytic fungi (EF) can enhance both plant growth and defense barriers against pests and pathogens, contributing to the reduction of chemical pesticides and fertilizers use in agriculture. Beauveria bassiana is an entomopathogenic fungus showing endophytism in several crops, often associated with a good capacity to limit the development of pests and disease agents. However, the diversity of the protective efficacy and plant response to different strains can be remarkable and needs to be carefully assessed for the successful and predictable use of these beneficial microorganisms. This study aims to select B. bassiana strains able to colonize tomato plants as endophytes as well as to control two important disease agents, Botrytis cinerea and Alternaria alternata, and the pest aphid, Macrosiphum euphorbiae. Nine wild-type isolates and one commercial strain were screened for endophytism, then further characterized for plant-growth promotion plus inhibition of disease development and pest infestation. Four isolates proved to have a good control activity against the biotic stressors tested, but only Bb716 was also able to promote plant growth. This work provides a simple workflow for the selection of beneficial EF, paving the way towards more effective use of B. bassiana in Integrate Pest Management (IPM) of tomato.

Published
2021

89. 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

Author

Lodato, Valentina, primary, Orlando, Valeria, additional, Alesi, Viola, additional, Di Tommaso, Silvia, additional, Bengala, Mario, additional, Parlapiano, Giovanni, additional, Agnolucci, Elisa, additional, Cicenia, Marianna, additional, Calì, Federica, additional, Digilio, Maria Cristina, additional, Drago, Fabrizio, additional, Novelli, Antonio, additional, and Baban, Anwar, additional

Published
2021
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91. Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests

Author

Sinno, Martina, primary, Ranesi, Marta, additional, Di Lelio, Ilaria, additional, Iacomino, Giuseppina, additional, Becchimanzi, Andrea, additional, Barra, Eleonora, additional, Molisso, Donata, additional, Pennacchio, Francesco, additional, Digilio, Maria Cristina, additional, Vitale, Stefania, additional, Turrà, David, additional, Harizanova, Vili, additional, Lorito, Matteo, additional, and Woo, Sheridan Lois, additional

Published
2021
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93. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Author

Caparrós-Martín, José A., De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A., Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E., Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A., Mill, Pleasantine, Lapunzina, Pablo, and Ruiz-Perez, Victor L.

Published
2015
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98. Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights

Author

Calcagni, Giulio, primary, Pugnaloni, Flaminia, additional, Digilio, Maria Cristina, additional, Unolt, Marta, additional, Putotto, Carolina, additional, Niceta, Marcello, additional, Baban, Anwar, additional, Piceci Sparascio, Francesca, additional, Drago, Fabrizio, additional, De Luca, Alessandro, additional, Tartaglia, Marco, additional, Marino, Bruno, additional, and Versacci, Paolo, additional

Published
2021
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100. Zucchini Plants Alter Gene Expression and Emission of (E)-β-Caryophyllene Following Aphis gossypii Infestation

Author

Vitiello, Alessia, Molisso, Donata, Digilio, Maria Cristina, Giorgini, Massimo, Corrado, Giandomenico, Bruce, Toby J.A., D’Agostino, Nunzio, Rao, Rosa, Vitiello, Alessia, Molisso, Donata, Digilio, Maria Cristina, Giorgini, Massimo, Corrado, Giandomenico, Bruce, Toby J.A., D’Agostino, Nunzio, and Rao, Rosa

Abstract

Zucchini (Cucurbita pepo L.) is widely cultivated in temperate regions. One of the major production challenges is the damage caused by Aphis gossypii (Homoptera: Aphididae), a polyphagous aphid, which can negatively affect its host plant, both directly by feeding and indirectly by vectoring viruses. To gain insights into the transcriptome events that occur during the zucchini–aphid interaction and to understand the early-to-late defense response through gene expression profiles, we performed RNA-sequencing (RNA-Seq) on zucchini leaves challenged by A. gossypii (24, 48, and 96 h post-infestation; hpi). Data analysis indicated a complex and dynamic pattern of gene expression and a transient transcriptional reconfiguration that involved more than 700 differentially expressed genes (DEGs), including a large number of defense-related genes. The down-regulation of key genes of plant immunity, such as leucine-rich repeat (LRR) protein kinases, transcription factors, and genes associated with direct (i.e., protease inhibitors, cysteine peptidases, etc.) and indirect (i.e., terpene synthase) defense responses, suggests the aphid ability to manipulate plant immune responses. We also investigated the emission of volatile organic compounds (VOCs) from infested plants and observed a reduced emission of (E)-β-caryophyllene at 48 hpi, likely the result of aphid effectors, which reflects the down-regulation of two genes involved in the biosynthesis of terpenoids. We showed that (E)-β-caryophyllene emission was modified by the duration of plant infestation and by aphid density and that this molecule highly attracts Aphidius colemani, a parasitic wasp of A. gossypii. With our results we contributed to the identification of genes involved in cucurbit plant interactions with phloem feeders. Our findings may also help pave the way toward developing tolerant zucchini varieties and to identify molecules for sustainable management of harmful insect populations.

Published
2021

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