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3. Influence of the Heat Treatment on the Layer JC of Internal-Sn Nb3Sn Wires With Internally Oxidized Nanoparticles

Author

Lonardo, F., Bovone, G., Buta, F., Bonura, M., Bagni, T., Medina-Clavijo, B., Ballarino, A., Hopkins, S. C., Boutboul, T., and Senatore, C.

Abstract

We evaluated various heat treatments (HT) for maximizing the Nb3Sn layer thickness while retaining a refined grain microstructure in low filament count internal-Sn Nb3Sn Rod-In-Tube wires with internally oxidized nanoparticles. These wires were manufactured in our laboratory using SnO2 as oxygen source and Nb alloys containing Ta and Zr or Hf. By reacting the wires at 650 °C for 200 hours we obtained relatively thin reaction layers but high layer critical current densities (layer JC) of ∼3000 A/mm2 for Hf-containing wires and ∼2700 A/mm2 for Zr-containing wires, both at 4.2 K and 16 T. Notably, both of these values are over the layer JC threshold of 2500 A/mm2, which is estimated to be necessary for attaining the corresponding Future Circular Collider (FCC) target non-Cu JC of 1500 A/mm2. Following this heat treatment, the fine-grained Nb3Sn area occupies only ∼35% of the filament area for Hf-containing wires and ∼20% for Zr-containing wires. After heat treatments with a reaction step at 700 °C these values increase to 70–80% and ∼60%, respectively, with only a minor increase of the grain size. However, we observed a noticeable decrease in the layer JC for these HT. Magnetic measurements show that the high JC wires exhibit a point defect contribution from precipitates to the pinning force, which is missing in wires with depressed JC values. The higher heat treatment temperatures may have caused excessive coarsening of the oxide precipitates, to sizes unsuitable for flux pinning. Reaction heat treatment temperatures in the range of 650 °C to 700 °C and durations between 50 and 200 hours may provide a better compromise between the Nb3Sn layer thickness, its grain size and nanoparticle size.

Published
2024
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5. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Author

Jaarsveld, R.H. van, Reilly, J., Cornips, M.C., Hadders, M.A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S.A., Binsbergen, E. van, Boogaard, M.J. van den, Brischoux-Boucher, E., Caylor, R.C., Ciolfi, A., Essen, T.A. van, Fontana, P., Hopman, S., Iascone, M., Javier, M.M., Kamsteeg, E.J., Kerkhof, J., Kido, J., Kim, H.G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M.A., Lewis, M.E.S., Lichty, A., Mannens, M.M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R.P., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J.H., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C.A., Yosovich, K., Yuskaitis, C.J., Zampino, G., Sadikovic, B., Alders, M., Oegema, R., Jaarsveld, R.H. van, Reilly, J., Cornips, M.C., Hadders, M.A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S.A., Binsbergen, E. van, Boogaard, M.J. van den, Brischoux-Boucher, E., Caylor, R.C., Ciolfi, A., Essen, T.A. van, Fontana, P., Hopman, S., Iascone, M., Javier, M.M., Kamsteeg, E.J., Kerkhof, J., Kido, J., Kim, H.G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M.A., Lewis, M.E.S., Lichty, A., Mannens, M.M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R.P., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J.H., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C.A., Yosovich, K., Yuskaitis, C.J., Zampino, G., Sadikovic, B., Alders, M., and Oegema, R.

Abstract

01 januari 2023, Item does not contain fulltext, PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether KDM2B variants are associated with NDD. METHODS: Through international collaborations, we collected data on individuals with heterozygous KDM2B variants. We applied methylation arrays on peripheral blood DNA samples to determine a KDM2B associated epigenetic signature. RESULTS: We recruited a total of 27 individuals with heterozygous variants in KDM2B. We present evidence, including a shared epigenetic signature, to support a pathogenic classification of 15 KDM2B variants and identify the CxxC domain as a mutational hotspot. Both loss-of-function and CxxC-domain missense variants present with a specific subepisignature. Moreover, the KDM2B episignature was identified in the context of a dual molecular diagnosis in multiple individuals. Our efforts resulted in a cohort of 21 individuals with heterozygous (likely) pathogenic variants. Individuals in this cohort present with developmental delay and/or intellectual disability; autism; attention deficit disorder/attention deficit hyperactivity disorder; congenital organ anomalies mainly of the heart, eyes, and urogenital system; and subtle facial dysmorphism. CONCLUSION: Pathogenic heterozygous variants in KDM2B are associated with NDD and a specific epigenetic signature detectable in peripheral blood.

Published
2023

6. X-Ray Absorption Spectroscopy to Investigate Precipitated Oxides in Nb3Sn Wires With an Internal Oxygen Source

Author

Bovone, G., Buta, F., Lonardo, F., Bonura, M., Borca, C. N., Huthwelker, T., Hopkins, S. C., Ballarino, A., Boutboul, T., and Senatore, C.

Abstract

Internal oxidation can achieve significantly enhanced Jc in Nb3Sn wires, but the mechanism of oxygen transport and oxide precipitation is not fully understood. Our investigation employs X-ray Absorption Near-Edge Structure (XANES) spectroscopy, revealing insights into the oxidation of Zr and its interaction with oxygen in different areas of the wire cross section. We discovered that in samples reacted at 650 °C the majority of Zr in the Nb3Sn layer is oxidized as ZrO2, whereas it predominantly remains non-oxidized within the residual alloy. This is an interesting finding especially for samples where oxygen has to diffuse first through the entire layer of Nb alloy to reach the regions where Nb3Sn will form. The onset critical temperature (Tc) of the residual Nb alloy was the lowest in such samples, most probably due to a higher content of interstitial oxygen resulting from the diffusion gradient. This report adds to existing indications that ZrO2 precipitates in superconductors employing internal oxidation are only located within the Nb3Sn layer and opens new avenues of research on the formation of this precipitates.

Published
2024
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7. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021

11. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Author

De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, Ma, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, and Zuffardi, O

Published
2007

15. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Author

Koczkowska, M. (Magdalena), Callens, T. (Tom), Gomes, A. (Alicia), Sharp, A. (Angela), Chen, Y. (Yunjia), Hicks, A.D. (Alesha D.), Aylsworth, A.S. (Arthur S.), Azizi, A.A. (Amedeo A.), Basel, D.G. (Donald G.), Bellus, G. (Gary), Bird, L.M. (Lynne), Blazo, M. (Maria), Burke, L.W. (Leah W.), Cannon, A. (Ashley), Collins, F. (Felicity), DeFilippo, C. (Colette), Denayer, E. (Ellen), Digilio, M.C. (Maria), Dills, S.K. (Shelley K.), Dosa, L. (Laura), Greenwood, R.S. (Robert S.), Griffis, C. (Cristin), Gupta, P. (Punita), Hachen, R.K. (Rachel K.), Hernández-Chico, C. (Concepción), Janssens, S. (Sandra), Jones, K.J. (Kristi), Jordan, J.T. (Justin T.), Kannu, P. (Peter), Korf, B. (Bruce), Lewis, A.M. (Andrea M.), Listernick, R.H. (Robert H.), Lonardo, F. (Fortunato), Mahoney, M.J. (Maurice J.), Ojeda, M.M. (Mayra Martinez), McDougall, C. (Carey), Mendelsohn, N.J., Miller, D.T. (David T.), Mori, M. (Mari), Oostenbrink, R. (Rianne), Perreault, S. (Sebastien), Pierpont, M.E. (Mary Ella), Piscopo, C. (Carmelo), Pond, D.A. (Dinel A.), Randolph, L.M. (Linda M.), Rauen, K.A. (Katherine), Rednam, S. (Surya), Rutledge, S.L. (S. Lane), Saletti, V. (Veronica), Schaefer, G.B. (G. Bradley), Schorry, E.K. (Elizabeth K.), Scott, D.A., Shugar, A. (Andrea), Siqveland, E. (Elizabeth), Starr, L. (Lois), Syed, A. (Ashraf), Trapane, P.L. (Pamela L.), Ullrich, N.J. (Nicole J.), Wakefield, E.G. (Emily G.), Walsh, L.E. (Laurence E.), Wangler, M.F. (Michael F.), Zackai, E. (Elaine), Claes, K. (Kathleen), McDonald, M.T. (Marie), Wimmer, K. (Katharina), Thornton, A.S. (Andrew), De Luca, A. (Alessandro), Martin, Y. (Yolanda), Legius, E. (Eric), Messiaen, L.M. (Ludwine), Koczkowska, M. (Magdalena), Callens, T. (Tom), Gomes, A. (Alicia), Sharp, A. (Angela), Chen, Y. (Yunjia), Hicks, A.D. (Alesha D.), Aylsworth, A.S. (Arthur S.), Azizi, A.A. (Amedeo A.), Basel, D.G. (Donald G.), Bellus, G. (Gary), Bird, L.M. (Lynne), Blazo, M. (Maria), Burke, L.W. (Leah W.), Cannon, A. (Ashley), Collins, F. (Felicity), DeFilippo, C. (Colette), Denayer, E. (Ellen), Digilio, M.C. (Maria), Dills, S.K. (Shelley K.), Dosa, L. (Laura), Greenwood, R.S. (Robert S.), Griffis, C. (Cristin), Gupta, P. (Punita), Hachen, R.K. (Rachel K.), Hernández-Chico, C. (Concepción), Janssens, S. (Sandra), Jones, K.J. (Kristi), Jordan, J.T. (Justin T.), Kannu, P. (Peter), Korf, B. (Bruce), Lewis, A.M. (Andrea M.), Listernick, R.H. (Robert H.), Lonardo, F. (Fortunato), Mahoney, M.J. (Maurice J.), Ojeda, M.M. (Mayra Martinez), McDougall, C. (Carey), Mendelsohn, N.J., Miller, D.T. (David T.), Mori, M. (Mari), Oostenbrink, R. (Rianne), Perreault, S. (Sebastien), Pierpont, M.E. (Mary Ella), Piscopo, C. (Carmelo), Pond, D.A. (Dinel A.), Randolph, L.M. (Linda M.), Rauen, K.A. (Katherine), Rednam, S. (Surya), Rutledge, S.L. (S. Lane), Saletti, V. (Veronica), Schaefer, G.B. (G. Bradley), Schorry, E.K. (Elizabeth K.), Scott, D.A., Shugar, A. (Andrea), Siqveland, E. (Elizabeth), Starr, L. (Lois), Syed, A. (Ashraf), Trapane, P.L. (Pamela L.), Ullrich, N.J. (Nicole J.), Wakefield, E.G. (Emily G.), Walsh, L.E. (Laurence E.), Wangler, M.F. (Michael F.), Zackai, E. (Elaine), Claes, K. (Kathleen), McDonald, M.T. (Marie), Wimmer, K. (Katharina), Thornton, A.S. (Andrew), De Luca, A. (Alessandro), Martin, Y. (Yolanda), Legius, E. (Eric), and Messiaen, L.M. (Ludwine)

Abstract

Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_2972

Published
2018
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16. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

Author

LONARDO F, LUQUETTI DV, ANNUNZIATA I, DELLA MONICA M, PERONE L, GREGORI M, ZUFFARDI O, SCARANO G., PARENTI, GIANCARLO, BRUNETTI PIERRI, NICOLA, ANDRIA, GENEROSO, Lonardo, F, Parenti, Giancarlo, Luquetti, Dv, Annunziata, I, DELLA MONICA, M, Perone, L, De, Gregori, M, Zuffardi, O, BRUNETTI PIERRI, Nicola, Andria, Generoso, and Scarano, G.

Subjects
Genetic Markers, Male, Ocular albinism, Chondrodysplasia Punctata, medicine.medical_specialty, Adolescent, Anosmia, Nerve Tissue Proteins, Short stature, Contiguous gene syndrome, Hypogonadotropic hypogonadism, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Chondrodysplasia punctata, Genetics (clinical), Chromosomes, Human, X, Extracellular Matrix Proteins, Ichthyosis, business.industry, General Medicine, medicine.disease, Dermatology, Osteochondrodysplasia, Phenotype, Endocrinology, Attention Deficit Disorder with Hyperactivity, Cytogenetic Analysis, Chromosome Deletion, medicine.symptom, business
Abstract

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. The patient was born at term after a pregnancy complicated by threatened abortion; decreased fetal movements and low estriol serum levels were reported during the last trimester. The boy was referred to us at the age of 13 years. He presented with aggressive and hyperactive behavior. He had dry hair, a flat face, bilateral lens opacities, a small nose with hypoplastic tip, alae nasi and nares, a high-arched palate with a very small cleft, mixed dentition with 7 unerupted permanent teeth, left sensorineural and right mixed hearing loss with a calcified plaque of the tympanic membrane, marked shortness of terminal phalanges of hands and feet, ichthyosis of trunk and limbs. The genomic interval between AFM248th5 and KAL1 was investigated. PCR analysis showed a deletion in Xp22.3, with the distal breakpoint between the marker AFM248th5 and PABX and the proximal one between DXS278 and KAL1 . Array-CGH and FISH analysis confirmed the interstitial deletion (of about 5.5 Mb) and refined the breakpoints. We discuss the phenotype of our patient in relationship to the deleted segment and the possibility of mental retardation and ADHD genes in the region.

Published
2007

19. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Author

Vetro, A., primary, Goidin, D., additional, Lesende, I., additional, Limongelli, I., additional, Ranzani, G.N., additional, Novara, F., additional, Bonaglia, M.C., additional, Rinaldi, B., additional, Franchi, F., additional, Manolakos, E., additional, Lonardo, F., additional, Scarano, F., additional, Scarano, G., additional, Costantino, L., additional, Tedeschi, S., additional, Giglio, S., additional, and Zuffardi, O., additional

Published
2017
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21. Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Author

Lonardo, F., Lonardo, M.S., Acquaviva, F., Della Monica, M., Scarano, F., and Scarano, G.

Subjects
*INTELLECTUAL disabilities, *MUSCLE hypotonia, *PATELLAR tendon, *PHENOTYPES, *GENOTYPES
Abstract

The Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well‐described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes. This broad clinical overlap led some authors to propose the concept of KAT6B spectrum disorders. On the other hand, some clinical features could help to differentiate the 2 disorders. Furthermore, it is possible to establish a genotype‐phenotype correlation when considering the position of the sequence variant along the gene, supporting the notion of the 2 disorders as really distinct entities. Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well‐described diseases. Some authors propose to unify them under a single denomination (KAT6B‐related disorders) because they may have many clinical features in common and are caused by sequence variants in the same gene. We believe that from a clinical point of view the facial phenotype of the patients with SBBYSS is striking enough to consider it appropriate to still maintain a distinction. [ABSTRACT FROM AUTHOR]

Published
2019
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23. Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: a study of 59 cases

Author

DE GREGORI, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, Mc, Anichini, C, Ferrero, Gb, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previdere, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, Alessandra, Cifuentes, F, VAN ESCH, H, Backx, L, Schinzel, A, Vermeesch, Jr, and Zuffardi, O.

Subjects
Duchenne muscular dystrophy, double-strand break, short tandem repeat, flurorescence in situ hybridisation, STR, CCR, complex chromosome rearrangement, DSB, PATRR, aplindromic AT-rich repeat, comparative genome hybridisation, FISH, BAC, bacterial artificial chromosome, CGH, DMD
Published
2007

34. Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript

Author

Fligman, I., Lonardo, F., Jhanwar, S. C., Gerald, W. L., Woodruff, J., and Ladanyi, M.

Subjects
Adult, Male, Neoplasms, Connective Tissue, Adolescent, Base Sequence, Transcription, Genetic, Recombinant Fusion Proteins, Molecular Sequence Data, Proteins, Middle Aged, Polymerase Chain Reaction, Translocation, Genetic, Neoplasm Proteins, Repressor Proteins, Sarcoma, Synovial, Proto-Oncogene Proteins, Humans, Female, Amino Acid Sequence, RNA, Neoplasm, Research Article, Aged
Abstract

The translocation t(X;18)(p11;q11) is seen in > 80% of synovial sarcomas (SS) with informative karyotypes. The breakpoints of the t(X;18) have been cloned and shown to involve two novel genes, SSX (at Xp11) and SYT (at 18q11), which produce a chimeric SYT-SSX transcript as a result of the translocation. Recently, SSX has been shown to be duplicated, with both copies, SSX1 and SSX2, located within distinct subregions of Xp11. We performed a reverse transcriptase polymerase chain reaction (RT-PCR) assay for both chimeric SYT-SSX transcripts in a series of 35 SS (29 monophasic, 6 biphasic) to assess its usefulness in molecular diagnosis and to evaluate the incidence of molecular variants. Of the 35 cases, 29 (83%) showed a specific SYT-SSX RT-PCR product, using a consensus primer for SSX1 and SSX2 Upon excluding three negative cases that had poor quality RNA, the proportion of positives rose to 91% (29/32). The 29 positive cases were further studied using primers specific for either SSX1 or SSX2; 19 cases were positive for SYT-SSX1 and 10 for SYT-SSX2. The relationship of histological subtype (monophasic versus biphasic) to SSX1 or SSX2 involvement was not statistically significant. In a single histologically unremarkable monophasic SS, a slightly larger SYT-SSX2 RT-PCR product was observed. Sequencing of this novel variant showed a 129-bp segment inserted between the usual SYT and SSX2 fusion points, of which 126 bp were derived from a more proximal (5') portion of SSX2 The 3 bp immediately 5' to the fusion point could not be assigned to either SYT or SSX2 and may represent an insertion-deletion or a cryptic splicing event. This fragment maintains the reading frame of the chimeric product and encodes a predicted protein larger by 43 amino acids, which nevertheless replaces the region homologous to the transcriptional repression domain Kruppel-associated box, recently recognized in the 5' portion of the SSX genes, with all but the 3' end of the SYT transcript. Thus, a diagnosis of SS may be confirmed in > 90% of cases using RT-PCR detection of the chimeric transcript resulting from the t(X;18), and the incidence of molecular variants appears low.

Published
1995

37. 34

Author

Steiner, F., primary, Siddiq, F., additional, Lonardo, F., additional, Wali, A., additional, and Pass, H.I., additional

Published
2007
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44. erbB-2 autophosphorylation is required for mitogenic action and high-affinity substrate coupling.

Author

Segatto, O, Lonardo, F, Helin, K, Wexler, D, Fazioli, F, Rhee, S G, Di Fiore, P P, Segatto, O, Lonardo, F, Helin, K, Wexler, D, Fazioli, F, Rhee, S G, and Di Fiore, P P

Abstract

Udgivelsesdato: 1992-Jul, Autophosphorylation of gp185erbB-2 in vivo is confined to its carboxy terminus and is required for optimal erbB-2 transforming activity under conditions of receptor overexpression. It remains unresolved, however, to what extent autophosphorylation regulates erbB-2 mitogenic signaling in normal cells, nor is the biochemical basis for such a regulatory function known. To address these issues, we utilized a chimeric molecule encompassing the extracellular domain of the epidermal growth factor (EGF) receptor (EGFR) fused to the transmembrane and intracellular domains of the erbB-2 product. In this EGFR/erbB-2 chimera, erbB-2 kinase activity is regulated by EGF binding. An EGFR/erbB-2 mutant bearing multiple Tyr----Phe substitutions at erbB-2 autophosphorylation sites (EGFR/erbB-2 5P) displayed markedly reduced phosphotyrosine content following EGF stimulation in comparison with the non-mutated chimera. When expressed in NR6 cells, the EGFR/erbB-2 5P mutant was unable to deliver a sizeable mitogenic signal when activated by EGF at physiological levels. In intact cells, the 5P mutant was still able to stimulate phosphorylation of the gamma isozyme of phospholipase C (PLC-gamma), a prototype erbB-2 substrate, although with a delayed time course, indicating that the 5P mutation decreased the affinity of the erbB-2 kinase for this substrate. This conclusion was further supported by the inability of the 5P mutant to associate with PLC-gamma in co-immunoprecipitation experiments. We infer that a major role of autophosphorylation is to increase the affinity of the erbB-2 kinase for its cellular substrates, so that, under physiological conditions, autophosphorylation is absolutely required for erbB-2 mitogenic signaling.

Published
1992

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