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1. Comparison of the ABC and ACMG systems for variant classification

Author

Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J., Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L., Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M., Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M., Haanpää, Maria K., Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I., Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T., and Laner, Andreas

Published
2024
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3. Developmental epileptic encephalopathy in DLG4-related synaptopathy

Author

Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido

Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi

Published
2024

5. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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6. Expanding the clinical and molecular spectrum of FOXG1- and ZBTB18-associated neurodevelopmental disorders

Author

Brea-Fernández, Alejandro J., primary, Souto-Trinei, Federica A., additional, Iglesias, Elba, additional, Caamaño, Pilar, additional, Rodríguez Sánchez, Berta, additional, Gómez Lado, Carmen, additional, Eiris, Jesús, additional, Fernández-Prieto, Montse, additional, Barros, Francisco, additional, Brea, Roberto J., additional, and Carracedo, Ángel, additional

Published
2023
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7. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.

Author

Brea-Fernández, Alejandro J., Souto-Trinei, Federica A., Iglesias, Elba, Caamaño, Pilar, Rodríguez Sánchez, Berta, Gómez Lado, Carmen, Eiris, Jesús, Fernández-Prieto, Montse, Barros, Francisco, Brea, Roberto J., and Carracedo, Ángel

Subjects
*AGENESIS of corpus callosum, *MOLECULAR spectra, *MONOZYGOTIC twins, *MISSENSE mutation, *ZINC-finger proteins, *NEURAL development
Abstract

Introduction: The zinc finger BTB domain-containing protein ZBTB18 binds to FOXG1 to form a transcriptional repressive complex involved in neuronal differentiation. Disruption of the components of this complex results in chromosome 1q43–q44 deletion syndrome/intellectual developmental disorder 22 or in FOXG1 syndrome. Case Presentation: This study reports on five patients with cognitive and behavioral impairment, seizures, microcephaly, and/or congenital brain abnormalities. Whole-exome sequencing identified deleterious ZBTB18 variants in three patients and deleterious FOXG1 variants in the remaining patients. We have detected a missense variant within the BTB domain of ZBTB18 in two affected monozygotic twins. In addition, we observed agenesis of the septum pellucidum in a missense FOXG1 carrier with a severe FOXG1 syndrome. Conclusion: Although the ZBTB18 zinc finger domains harbor the majority of known deleterious variants, we report a novel de novo rare missense variant within the BTB domain. The agenesis of the septum pellucidum observed in a missense FOXG1 carrier could be considered as a novel clinical feature associated with FOXG1 syndrome. The severe FOXG1 syndrome in this patient contrasts with the milder phenotype expected for a missense. Genetic or environmental factors may explain this phenotypic variability in FOXG1 syndrome. Established Facts: Deleterious variants in FOXG1 and ZBTB18 are associated with neurodevelopmental disorders. Most of the known deleterious variants in ZBTB18 are located in the zinc finger domains. Deletions, frameshift, and nonsense variants affecting N-terminal and forkhead domains in FOXG1 result in more severe syndrome phenotypes than missense variants located in the same regions. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Author

Ebrahimi-Fakhari, Darius, primary, Teinert, Julian, additional, Behne, Robert, additional, Wimmer, Miriam, additional, D'Amore, Angelica, additional, Eberhardt, Kathrin, additional, Brechmann, Barbara, additional, Ziegler, Marvin, additional, Jensen, Dana M, additional, Nagabhyrava, Premsai, additional, Geisel, Gregory, additional, Carmody, Erin, additional, Shamshad, Uzma, additional, Dies, Kira A, additional, Yuskaitis, Christopher J, additional, Salussolia, Catherine L, additional, Ebrahimi-Fakhari, Daniel, additional, Pearson, Toni S, additional, Saffari, Afshin, additional, Ziegler, Andreas, additional, Kölker, Stefan, additional, Volkmann, Jens, additional, Wiesener, Antje, additional, Bearden, David R, additional, Lakhani, Shenela, additional, Segal, Devorah, additional, Udwadia-Hegde, Anaita, additional, Martinuzzi, Andrea, additional, Hirst, Jennifer, additional, Perlman, Seth, additional, Takiyama, Yoshihisa, additional, Xiromerisiou, Georgia, additional, Vill, Katharina, additional, Walker, William O, additional, Shukla, Anju, additional, Dubey Gupta, Rachana, additional, Dahl, Niklas, additional, Aksoy, Ayse, additional, Verhelst, Helene, additional, Delgado, Mauricio R, additional, Kremlikova Pourova, Radka, additional, Sadek, Abdelrahim A, additional, Elkhateeb, Nour M, additional, Blumkin, Lubov, additional, Brea-Fernández, Alejandro J, additional, Dacruz-Álvarez, David, additional, Smol, Thomas, additional, Ghoumid, Jamal, additional, Miguel, Diego, additional, Heine, Constanze, additional, Schlump, Jan-Ulrich, additional, Langen, Hendrik, additional, Baets, Jonathan, additional, Bulk, Saskia, additional, Darvish, Hossein, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C, additional, Lim-Melia, Elizabeth, additional, Aydinli, Nur, additional, Alanay, Yasemin, additional, El-Rashidy, Omnia, additional, Nampoothiri, Sheela, additional, Patel, Chirag, additional, Beetz, Christian, additional, Bauer, Peter, additional, Yoon, Grace, additional, Guillot, Mireille, additional, Miller, Steven P, additional, Bourinaris, Thomas, additional, Houlden, Henry, additional, Robelin, Laura, additional, Anheim, Mathieu, additional, Alamri, Abdullah S, additional, Mahmoud, Adel A H, additional, Inaloo, Soroor, additional, Habibzadeh, Parham, additional, Faghihi, Mohammad Ali, additional, Jansen, Anna C, additional, Brock, Stefanie, additional, Roubertie, Agathe, additional, Darras, Basil T, additional, Agrawal, Pankaj B, additional, Santorelli, Filippo M, additional, Gleeson, Joseph, additional, Zaki, Maha S, additional, Sheikh, Sarah I, additional, Bennett, James T, additional, and Sahin, Mustafa, additional

Published
2020
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9. Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Author

Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny AF, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E, and Tizzano EF

Abstract

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation. We identified 19 ASXL3 variants, nine of which are novel. We documented recurrence in nontwin siblings due to parental mosaicism. The predominant prenatal finding was intrauterine growth restriction (35%) followed, after birth, by feeding difficulties (90.5%), hypotonia (85.7%), and gastroesophageal reflux disease (82.4%). Later in life, intellectual disability, language impairment, autism spectrum disorder (75%), and joint laxity (73.7%) were noted. Individuals with variants in the 3' mutational cluster region (MCR) of exon 12 exhibited more perinatal feeding problems, and those with variants in the 5' MCR of exon 11 displayed lower percentiles in height and occipitofrontal circumference, as well as higher frequency of arched eyebrows. This study is the first characterization of a Spanish BRPS cohort, with more than 50 clinical features analyzed, representing the most detailed phenotypic analysis to date., (© 2025 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2025
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