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2. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Author

Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, and Salpietro, Vincenzo

Published
2022
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6. Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

Author

Chelleri, Cristina, primary, Scala, Marcello, additional, De Marco, Patrizia, additional, Guerriero, Vittorio, additional, Ognibene, Marzia, additional, Madia, Francesca, additional, Guerrisi, Sara, additional, Di Duca, Marco, additional, Torre, Michele, additional, Tamburro, Serena, additional, Scudieri, Paolo, additional, Piccolo, Gianluca, additional, Mattioli, Girolamo, additional, Buffelli, Francesca, additional, Uva, Paolo, additional, Vozzi, Diego, additional, Fulcheri, Ezio, additional, Striano, Pasquale, additional, Diana, Maria Cristina, additional, and Zara, Federico, additional

Published
2023
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8. Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Author

Ognibene, Marzia, primary, Scala, Marcello, additional, Iacomino, Michele, additional, Schiavetti, Irene, additional, Madia, Francesca, additional, Traverso, Monica, additional, Guerrisi, Sara, additional, Di Duca, Marco, additional, Caroli, Francesco, additional, Baldassari, Simona, additional, Tappino, Barbara, additional, Romano, Ferruccio, additional, Uva, Paolo, additional, Vozzi, Diego, additional, Chelleri, Cristina, additional, Piatelli, Gianluca, additional, Diana, Maria Cristina, additional, Zara, Federico, additional, Capra, Valeria, additional, Pavanello, Marco, additional, and De Marco, Patrizia, additional

Published
2023
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9. Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

Author

Chelleri, Cristina, primary, Scala, Marcello, additional, De Marco, Patrizia, additional, Traverso, Monica, additional, Ognibene, Marzia, additional, Bruno, Irene, additional, Striano, Pasquale, additional, Severino, Mariasavina, additional, Zara, Federico, additional, Diana, Maria Cristina, additional, and Pavanello, Marco, additional

Published
2023
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11. Additional file 1 of Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Author

Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, and Salpietro, Vincenzo

Abstract

Additional file 1: Additional Table 1. Plasma biochemical analyses in PEX13-variants carriers. Legend: VLCFAs (very long chain fatty acids): C22:0 docosanoate, C24:0 tetracosanoate, C26:0 hexacosenoate, NA not available. Additional Figure 1. Sanger sequencing representative of the p.Arg294Trp variant. Electropherogram of individual A.II-3 (A) showing p.Arg294Trp variant inherited from his father (B). Electropherogram of individual A.II-3 (C) showing p.Y192QfsTer.14 variant inherited from his mother (D). Additional Figure 2. Electroencephalography (EEG) of individual D.II-3. EEG performed at one day of life (A) showing numerous multifocal sharp waves, especially on the temporal regions bilaterally, in the context of continuous electrical activity. EEG control performed at one month of age (B) in the same individual. A slightly hypovolted theta-delta background activity with a reduction in multifocal sharp-waves are observed. Additional Figure 3. Fundoscopy examination of individual E.II-1. Note the cherry-red spot of the macula and the diffuse white dots. Additional Figure 4. Modelling. Comparison between molecular dynamics simulation snapshots at 0ns (dark) and 250ns (light) for (A) PEX13-WT:PEX14:PEX5 tetramer; (B) PEX13 Arg294Trp:PEX14:PEX5 tetramer. Configurations were obtained by PEX13 homology modelling followed by 500ns of molecular dynamics simulations followed by blind docking to PEX14:PEX5. Color code: PEX13-WT (green), PEX13-Arg294Trp (magenta), PEX14 (white), PEX5 (blue). Arg and Trp 294 are highlighted in PEX13-WT and PEX13-Arg294Trp, respectively. Additional Figure 5. Modelling. A collection of possible homodimeric conformations for (A) PEX13-WT and (B) PEX13-Arg294Trp. Representative conformations of the first eight clusters identified by blind docking. Arg294 is highlighted in PEX13-WT (green) and Trp294 is highlighted in PEX13-Arg294Trp (magenta). Additional Figure 6. Closest contact distance distribution. The closest distance between Arg294 (green) [Trp294 (mauve)] and its binding partner in PEX13:PEX13 homodimers calculated over all the generated docking poses.

Published
2022
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12. RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

Author

Romanisio, Giulia, primary, Chelleri, Cristina, additional, Scala, Marcello, additional, Piccolo, Gianluca, additional, Carlini, Barbara, additional, Gatti, Laura, additional, Capra, Valeria, additional, Zara, Federico, additional, Bersano, Anna, additional, Pavanello, Marco, additional, De Marco, Patrizia, additional, and Diana, Maria Cristina, additional

Published
2021
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13. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Author

Scala, Marcello, primary, Schiavetti, Irene, additional, Madia, Francesca, additional, Chelleri, Cristina, additional, Piccolo, Gianluca, additional, Accogli, Andrea, additional, Riva, Antonella, additional, Salpietro, Vincenzo, additional, Bocciardi, Renata, additional, Morcaldi, Guido, additional, Di Duca, Marco, additional, Caroli, Francesco, additional, Verrico, Antonio, additional, Milanaccio, Claudia, additional, Viglizzo, Gianmaria, additional, Traverso, Monica, additional, Baldassari, Simona, additional, Scudieri, Paolo, additional, Iacomino, Michele, additional, Piatelli, Gianluca, additional, Minetti, Carlo, additional, Striano, Pasquale, additional, Garrè, Maria Luisa, additional, De Marco, Patrizia, additional, Diana, Maria Cristina, additional, Capra, Valeria, additional, Pavanello, Marco, additional, and Zara, Federico, additional

Published
2021
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16. Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study

Author

Garibotto, Federica, primary, Madia, Francesca, additional, Milanaccio, Claudia, additional, Verrico, Antonio, additional, Piccardo, Arnoldo, additional, Tortora, Domenico, additional, Piatelli, Gianluca, additional, Diana, Maria Cristina, additional, Capra, Valeria, additional, Garrè, Maria Luisa, additional, Rossi, Andrea, additional, and Morana, Giovanni, additional

Published
2020
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19. Listeria Meningitis in an Immunocompetent Child

Author

Villa, Giovanna, primary, Diana, Maria Cristina, additional, Solari, Nicoletta, additional, Bandettini, Roberto, additional, Sorrentino, Stefania, additional, Loy, Anna, additional, Losurdo, Giuseppe, additional, and Renna, Salvatore, additional

Published
2017
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22. Anterior chest wall deformities in children with neurofibromatosis type 1.

Author

Chelleri, Cristina, Guerriero, Vittorio, Torre, Michele, Brolatti, Noemi, Piccolo, Gianluca, Mattioli, Girolamo, Boero, Silvio, Minetti, Carlo, and Diana, Maria Cristina

Subjects
NEUROFIBROMATOSIS 1, PECTUS excavatum, HUMAN abnormalities, GENE silencing, DNA, SKELETAL abnormalities, GENETIC disorders
Abstract

Patients with NF1 sometimes develop anterior chest wall deformities, although the few available studies have only been conducted in adults.2 Our aims were to investigate if anterior chest wall deformities were already detectable in children with NF1 and assess their frequency. In 2006, Crawford et al reported a 4.3% prevalence of pectus deformities in a descriptive study of orthopaedic complications in children with NF1.3 The prevalence of our anterior chest wall deformities (3.4%) was significantly higher than the general population ( I P i < 0.001)2 but the male/female ratio (3:1) was similar. [Extracted from the article]

Published
2021
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23. Listeria Meningitisin an Immunocompetent Child

Author

Villa, Giovanna, Diana, Maria Cristina, Solari, Nicoletta, Bandettini, Roberto, Sorrentino, Stefania, Loy, Anna, Losurdo, Giuseppe, and Renna, Salvatore

Abstract

Listeria monocytogenesis a facultative anerobic, gram-positive bacillus that is isolated from the soil, vegetables, and wild or domestic animals. Listeria infection is usually found in the older adults, immunocompromised patients, pregnant women, and newborns, whereas it is rare in healthy infants and children. Listeria monocytogenesmay cause meningitis, meningoencephalitis, brain abscess, pyogenic arthritis, osteomyelitis, and liver abscess in children. The course of meningoencephalitis by Listeriais often severe and even fatal. Complications such as acute hydrocephalus, brain abscess, and spine abscess can develop, and the mortality associated with listeriosis is significantly high. We present a case of a previously healthy 7-year-old boy who developed Listeria monocytogenesmeningitis.

Published
2017
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24. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Author

Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro, Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D'Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D, Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K, Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, and Salpietro, Vincenzo

Subjects
Peroxisome biogenesis disorders, PEX13, mitochondrial dysfunction, Zellweger spectrum disorder, Genetic Association Studies, Humans, Membrane Proteins, Mutation, Peroxisomes, Zellweger Syndrome, Genetic Association Studie, General Medicine, Peroxisome, Peroxisome biogenesis disorder, Pharmacology (medical), Membrane Protein, Genetics (clinical), Human
Abstract

Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype–phenotype correlations and disease mechanisms remain elusive. Methods We report five families carrying biallelic variants in PEX13. The identified variants were initially evaluated by using a combination of computational approaches. Immunofluorescence and complementation studies on patient-derived fibroblasts were performed in two patients to investigate the cellular impact of the identified mutations. Results Three out of five families carried a recurrent p.Arg294Trp non-synonymous variant. Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy. Computational predictions highlighted the involvement of the Arg294 residue in PEX13 homodimerization, and the analysis of blind docking predicted that the p.Arg294Trp variant alters the formation of dimers, impairing the stability of the PEX13/PEX14 translocation module. Studies on muscle tissues and patient-derived fibroblasts revealed biochemical alterations of mitochondrial function and identified mislocalized mitochondria and a reduced number of peroxisomes with abnormal PEX13 concentration. Conclusions This study expands the phenotypic and mutational spectrum of PEX13-related ZSDs and also highlight a variety of disease mechanisms contributing to PEX13-related clinical phenotypes, including the emerging contribution of secondary mitochondrial dysfunction to the pathophysiology of ZSDs.

Published
2022

25. Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Author

Chelleri C, Brolatti N, De Marco P, Ognibene M, Diana MC, Madia F, Duca MD, Santangelo A, Capra V, Striano P, Zara F, and Scala M

Abstract

Legius syndrome, commonly referred to as SPRED1-related neurofibromatosis type 1-like syndrome, is a rare autosomal dominant disorder characterized by café-au-lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopmental manifestations, including a different degree of learning difficulties. Although a partial clinical overlap exists with neurofibromatosis type 1 (NF1), Legius syndrome is distinguished by its genetic etiology and the absence of neurofibromas, indicating an inherent lack of tumor risk. The SPRED1 gene encodes the Sprouty-related protein with an EVH1 domain 1 (SPRED1), a negative regulator of the RAS-MAPK signaling pathway with a crucial role in cellular growth and development. Despite various genetic variants and genomic deletions associated with Legius syndrome, the full genetic spectrum of this condition remains elusive. In this study, we investigated the underlying genetic etiology in a cohort of patients presenting with typical manifestations of Legius syndrome using a custom Next Generation Sequencing (NGS) panel and Multiplex Ligation-Dependent Probe Amplification (MLPA) for NF1 and SPRED1. We identified 12 novel SPRED1 damaging variants segregating with the phenotype in all families. These rare variants affect conserved residues of the protein and are predicted damaging according to in silico tools. No clear genotype-phenotype correlations could be observed in the current cohort and previously reported patients, underscoring the heterogeneous genotype spectrum of this condition. Our findings expand the understanding of SPRED1 variants causing Legius syndrome and underscore the importance of comprehensively characterizing the genetic landscape of this disorder. Despite the absence of clear genotype-phenotype correlations, elucidating the genetic etiology of Legius syndrome is pertinent for facilitating accurate diagnosis, genetic counseling, and therapeutic interventions., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2024
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26. Exploring Headaches in Pediatric Behçet Disease: Prevalence, Clinical Impact, and Management.

Author

Santangelo A, Corsello A, Gizzi G, Lancieri M, Diana MC, Trucco F, Orsini A, Bonuccelli A, Peroni DG, Perilli L, Correnti E, Santangelo G, Striano P, and Raieli V

Abstract

Behçet's Disease (BD), also recognized as Behçet Syndrome, manifests uniquely in pediatric populations as Pediatric Behçet's Disease (PBD), characterized by multisystemic inflammatory symptoms including recurrent oral and genital aphthae, and diverse ocular, vascular, and neurological involvements. This review elucidates the prevalence, burden, and management strategies of headaches in children with PBD, focusing on both primary headaches, such as migraine and tension-type headaches, and secondary headaches linked to systemic disease manifestations. It explores the pathophysiological underpinnings specific to PBD-related headaches and discusses the intricate relationship between systemic inflammatory processes and neurological symptoms. By examining the literature from 2004 to 2024, this study highlights the high frequency of headache in PBD patients, underscoring its diagnostic and clinical significance. We aim to provide a detailed understanding of headache management in PBD, emphasizing tailored therapeutic strategies that address the unique challenges faced by this patient population. This review also underscores the importance of comprehensive clinical evaluations to optimize outcomes and mitigate long-term sequelae, proposing that awareness and understanding of headache in PBD can significantly enhance both diagnosis and management.

Published
2024
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