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1. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Author

Johannesen, Katrine M., Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M., Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L., Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R., Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, and Møller, Rikke S.

Published
2019
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2. Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, and Garavelli, Livia

Published
2020
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3. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Author

Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, and Garavelli, Livia

Published
2018
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5. Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern]

Author

Schulz,Solveig, Volleth,Marianne, Muschke,Petra, Wieland,Isle, Wieacker,Peter, Schulz,Solveig, Volleth,Marianne, Muschke,Petra, Wieland,Isle, and Wieacker,Peter

Abstract

Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Appl Clin Genet. 2008;1:19–22.The Editor-in-Chief and Publisher of The Application of Clinical Genetics wish to issue an Expression of Concern for the above published article.The original article contained a clinical image of a child, who was the focus of this case study. It came to our attention that the article does not include a statement to confirm that consent for this image was obtained from the parent or guardian of the patient. We attempted to contact the authors of this article and their affiliated institution to confirm if consent to publish was obtained but despite multiple attempts have received no response. We would like to alert readers of this issue and advise that the image of the subject has been replaced with a grey box until further notice. This decision follows the recommendations of the Committee on Publication Ethics (COPE).The Editor and Dove Medical Press make every effort to ensure publication ethics are upheld and are committed to supporting the high standards of The Application of Clinical Genetics journal. Read the original article

Published
2021

7. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Author

Krieger, Michael, Roos, Andreas, Stendel, Claudia, Claeys, Kristl G., Sonmez, Fatma Mujgan, Baudis, Michael, Bauer, Peter, Bornemann, Antje, de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Kingston, Helen, Kirschner, Janbernd, Medne, Livija, Muschke, Petra, Rivier, François, Rudnik-Schöneborn, Sabine, Spengler, Sabrina, Inzana, Francesca, Stanzial, Franco, Benedicenti, Francesco, Synofzik, Matthis, Lia Taratuto, Ana, Pirra, Laura, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Williams, Denise, Zerres, Klaus, Weis, Joachim, and Senderek, Jan

Published
2013
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8. Additional file 1 of Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Pisa, Veronica Di, Garcia, Juliette Dupont, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Brissia Lazalde-Medina, Baris Malbora, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Reina, Purificación Marín, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Rossi, Paolo Giorgi, and Garavelli, Livia

Abstract

Additional file 1: Table S1. Number of measurements for male and female patients for height, weight and head circumference in relation to the age groups.

Published
2020
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9. Mowat-Wilson syndrome:growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, Garavelli, Livia, Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, and Garavelli, Livia

Abstract

BACKGROUND: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.RESULTS: In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build.CONCLUSIONS: T

Published
2020

11. QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

Author

Föhrenbach, Melanie, primary, Jamra, Rami Abou, additional, Borkhardt, Arndt, additional, Brozou, Triantafyllia, additional, Muschke, Petra, additional, Popp, Bernt, additional, Rey, Linda K., additional, Schaper, Jörg, additional, Surowy, Harald, additional, Zenker, Martin, additional, Zweier, Christiane, additional, Wieczorek, Dagmar, additional, and Redler, Silke, additional

Published
2020
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12. Mowat-Wilson Syndrome: Growth Charts

Author

Ivanovski, Ivan, primary, Djuric, Olivera, additional, Broccoli, Serena, additional, Caraffi, Stefano Giuseppe, additional, Patrizia, Accorsi, additional, Adam, Margaret P, additional, Avela, Kristina, additional, Badura-Stronka, Magdalena, additional, Bayat, Allan, additional, Clayton-Smith, Jill, additional, Cocco, Isabella, additional, Cordelli, Duccio Maria, additional, Cuturilo, Goran, additional, Pisa, Veronica Di, additional, Garcia, Juliette Dupont, additional, Gastaldi, Roberto, additional, Giordano, Lucio, additional, Guala, Andrea, additional, Hoei-Hansen, Christina, additional, Inaba, Mie, additional, Iodice, Alessandro, additional, Nielsen, Jens Erik Klint, additional, Kuburovic, Vladimir, additional, Lazalde-Medina, Brissia, additional, Malbora, Baris, additional, Mizuno, Seiji, additional, Moldovan, Oana, additional, Møller, Rikke S, additional, Muschke, Petra, additional, Otelli, Valeria, additional, Pantaleoni, Chiara, additional, Piscopo, Carmelo, additional, Poch-Olive, Maria Luisa, additional, Prpic, Igor, additional, Purificacion, Marin Reina, additional, Raviglione, Federico, additional, Ricci, Emilia, additional, Scarano, Emanuela, additional, Simonte, Graziella, additional, Smigiel, Robert, additional, Tanteles, George, additional, Tarani, Luigi, additional, Trimouille, Aurelien, additional, Valera, Elvis Terci, additional, Vergano, Samantha Schrier, additional, Writzl, Karin, additional, Callewaert, Bert, additional, Savasta, Salvatore, additional, Street, Maria Elisabeth, additional, Iughetti, Lorenzo, additional, Bernasconi, Sergio, additional, Rossi, Paolo Giorgi, additional, and Garavelli, Livia, additional

Published
2020
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15. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Author

Genetica Klinische Genetica, Brain, ZL Kinder Ner en Nec Medisch, Johannesen, Katrine M, Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M, Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L, Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R, Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, Møller, Rikke S, Genetica Klinische Genetica, Brain, ZL Kinder Ner en Nec Medisch, Johannesen, Katrine M, Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M, Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L, Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R, Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, and Møller, Rikke S

Published
2019

16. Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Author

Büttner, Benjamin, primary, Martin, Sonja, additional, Finck, Anja, additional, Arelin, Maria, additional, Baade-Büttner, Carolin, additional, Bartolomaeus, Tobias, additional, Bauer, Peter, additional, Bertsche, Astrid, additional, Bernhard, Matthias K., additional, Biskup, Saskia, additional, Donato, Nataliya Di, additional, Elgizouli, Magdeldin, additional, Ewald, Roland, additional, Heine, Constanze, additional, Hellenbroich, Yorck, additional, Hentschel, Julia, additional, Hoffjan, Sabine, additional, Horn, Susanne, additional, Hornemann, Frauke, additional, Huhle, Dagmar, additional, Kamphausen, Susanne B., additional, Kiess, Wieland, additional, Krey, Ilona, additional, Kuechler, Alma, additional, Liesfeld, Ben, additional, Merkenschlager, Andreas, additional, Mitter, Diana, additional, Muschke, Petra, additional, Pfäffle, Roland, additional, Polster, Tilman, additional, Schanze, Ina, additional, Schlump, Jan-Ulrich, additional, Syrbe, Steffen, additional, Wieczorek, Dagmar, additional, Zenker, Martin, additional, Lemke, Johannes R., additional, Duc, Diana Le, additional, Platzer, Konrad, additional, and Jamra, Rami Abou, additional

Published
2019
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18. QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.

Author

Föhrenbach, Melanie, Jamra, Rami Abou, Borkhardt, Arndt, Brozou, Triantafyllia, Muschke, Petra, Popp, Bernt, Rey, Linda K., Schaper, Jörg, Surowy, Harald, Zenker, Martin, Zweier, Christiane, Wieczorek, Dagmar, and Redler, Silke

Subjects
SHORT stature, FRAMESHIFT mutation, SYNDROMES, PHENOTYPES, MISSENSE mutation
Abstract

Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here, we present four unrelated individuals with one known nonsense variant (c.1954C > T; p.[Arg652*]) and three novel de novo QRICH1 variants, respectively. These included two frameshift mutations (c.832_833del; p.(Ser278Leufs*25), c.1812_1813delTG; p.(Glu605Glyfs*25)) and interestingly one missense mutation (c.2207G > A; p.[Ser736Asn]), expanding the mutational spectrum. Enlargement of the cohort by these four individuals contributes to the delineation of the VBS phenotype and suggests expressive speech delay, moderate motor delay, learning difficulties/mild ID, mild microcephaly, short stature and notable social behavior deficits as clinical hallmarks. In addition, one patient presented with nephroblastoma. The possible involvement of QRICH1 in pediatric cancer assumes careful surveillance a key priority for outcome of these patients. Further research and enlargement of cohorts are warranted to learn about the genetic architecture and the phenotypic spectrum in more detail. [ABSTRACT FROM AUTHOR]

Published
2021
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19. Neuroimaging findings in Mowat-Wilson syndrome:A study of 54 patients

Author

Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, and Tone, Luis Gonzaga

Abstract

Purpose:Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.Methods:Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.Results:Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis.Conclusion:This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.

Published
2017

20. Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Author

Garavelli, Livia, primary, Ivanovski, Ivan, additional, Caraffi, Stefano Giuseppe, additional, Santodirocco, Daniela, additional, Pollazzon, Marzia, additional, Cordelli, Duccio Maria, additional, Abdalla, Ebtesam, additional, Accorsi, Patrizia, additional, Adam, Margaret P., additional, Baldo, Chiara, additional, Bayat, Allan, additional, Belligni, Elga, additional, Bonvicini, Federico, additional, Breckpot, Jeroen, additional, Callewaert, Bert, additional, Cocchi, Guido, additional, Cuturilo, Goran, additional, Devriendt, Koenraad, additional, Dinulos, Mary Beth, additional, Djuric, Olivera, additional, Epifanio, Roberta, additional, Faravelli, Francesca, additional, Formisano, Debora, additional, Giordano, Lucio, additional, Grasso, Marina, additional, Grønborg, Sabine, additional, Iodice, Alessandro, additional, Iughetti, Lorenzo, additional, Lacombe, Didier, additional, Maggi, Massimo, additional, Malbora, Baris, additional, Mammi, Isabella, additional, Moutton, Sebastien, additional, Møller, Rikke, additional, Muschke, Petra, additional, Napoli, Manuela, additional, Pantaleoni, Chiara, additional, Pascarella, Rosario, additional, Pellicciari, Alessandro, additional, Poch-Olive, Maria Luisa, additional, Raviglione, Federico, additional, Rivieri, Francesca, additional, Russo, Carmela, additional, Savasta, Salvatore, additional, Scarano, Gioacchino, additional, Selicorni, Angelo, additional, Silengo, Margherita, additional, Sorge, Giovanni, additional, Tarani, Luigi, additional, Tone, Luis Gonzaga, additional, Toutain, Annick, additional, Trimouille, Aurelien, additional, Te Valera, Elvis rci, additional, Vergano, Samantha Schrier, additional, Zanotta, Nicoletta, additional, Zollino, Marcella, additional, Dobyns, William B, additional, and Paciorkowski, Alex R, additional

Published
2017
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21. A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.

Author

Karoglan, Ante, Schanze, Denny, Bär, Claudia, Muschke, Petra, Zenker, Martin, and Schanze, Ina

Abstract

Interstitial deletions within the chromosomal region 2q24.2 have already been linked to intellectual disability (ID) in the past. In most cases the described patients showed a syndromic form of ID associated with large deletions containing multiple genes. Here we describe a family with two siblings with mild non‐syndromic ID. They shared the same 564 kb deletion in the chromosomal region 2q24.2 containing only the TANK gene, which was inherited from the similarly affected father, thus suggesting haploinsufficiency of TANK as a novel cause of non‐syndromic ID. TANK encodes the TRAF family member‐associated NF‐kappa‐B activator (OMIM #603893), which is expressed in many tissues. It functions as an adapter protein that interacts with the NF‐kappa‐B pathway and SOX11, an essential transcription factor in regeneration, survival and differentiation of the neuronal system. TANK has not been linked to ID or other human diseases before. To further elucidate the role of TANK in non‐syndromic ID, we screened a cohort of 288 TANK deletion negative non‐syndromic mental retardation patients for TANK mutations without identifying any pathogenic variant. [ABSTRACT FROM AUTHOR]

Published
2019
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22. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Author

Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Bari, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R., Zollino, Marcella (ORCID:0000-0003-4871-9519), Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Bari, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R., and Zollino, Marcella (ORCID:0000-0003-4871-9519)

Abstract

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. METHODS: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations. RESULTS: Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis. CONCLUSION: This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online publication 10 November 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.176.

Published
2016

23. Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Author

Hochstenbach, Ron, Nowakowska, Beata, Volleth, Marianne, Ummels, Amber, Kutkowska-Kaźmierczak, Anna, Obersztyn, Ewa, Ziemkiewicz, Kamila, Gerloff, Claudia, Schanze, Denny, Zenker, Martin, Muschke, Petra, Schanze, Ina, Poot, Martin, Liehr, Thomas, Hochstenbach, Ron, Nowakowska, Beata, Volleth, Marianne, Ummels, Amber, Kutkowska-Kaźmierczak, Anna, Obersztyn, Ewa, Ziemkiewicz, Kamila, Gerloff, Claudia, Schanze, Denny, Zenker, Martin, Muschke, Petra, Schanze, Ina, Poot, Martin, and Liehr, Thomas

Published
2015

24. Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Author

Genetica Sectie Genoomdiagnostiek, Hochstenbach, Ron, Nowakowska, Beata, Volleth, Marianne, Ummels, Amber, Kutkowska-Kaźmierczak, Anna, Obersztyn, Ewa, Ziemkiewicz, Kamila, Gerloff, Claudia, Schanze, Denny, Zenker, Martin, Muschke, Petra, Schanze, Ina, Poot, Martin, Liehr, Thomas, Genetica Sectie Genoomdiagnostiek, Hochstenbach, Ron, Nowakowska, Beata, Volleth, Marianne, Ummels, Amber, Kutkowska-Kaźmierczak, Anna, Obersztyn, Ewa, Ziemkiewicz, Kamila, Gerloff, Claudia, Schanze, Denny, Zenker, Martin, Muschke, Petra, Schanze, Ina, Poot, Martin, and Liehr, Thomas

Published
2015

25. Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Author

Hochstenbach, Ron, primary, Nowakowska, Beata, additional, Volleth, Marianne, additional, Ummels, Amber, additional, Kutkowska-Kaźmierczak, Anna, additional, Obersztyn, Ewa, additional, Ziemkiewicz, Kamila, additional, Gerloff, Claudia, additional, Schanze, Denny, additional, Zenker, Martin, additional, Muschke, Petra, additional, Schanze, Ina, additional, Poot, Martin, additional, and Liehr, Thomas, additional

Published
2015
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26. Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)

Author

Schulz,Solveig, Volleth,Marianne, Muschke,Petra, Wieland,Isle, Wieacker,Peter, Schulz,Solveig, Volleth,Marianne, Muschke,Petra, Wieland,Isle, and Wieacker,Peter

Abstract

Solveig Schulz 1, Marianne Volleth 1, Petra Muschke 1, Ilse Wieland 1, Peter Wieacker 1,2 1Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany; 2Institute of Human Genetics, Westfalian Wilhelms University Münster, Germany Abstract: We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, hypertelorism, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay. Greig cephalopolysyndactyly (GCPS) can be caused by GLI3 deletions. In patients with large deletions which include additional genes, it is termed Greig cephalopolysyndactyly-contiguous gene syndrome (GCPS-CGS). It is generally believed that the deletion size correlates with disease severity. Nearly all cases appear to be a result of GLI3 de novo deletions. Chromosome analysis of our patient revealed a large deletion in chromosome 7(p13–p14). Unlike most previously described cases, we found that this deletion resulted from a paternal balanced insertional translocation of 7p13– 14 into the long arm of chromosome 5. Keywords: chromosome deletion, Greig syndrome, mental retardation, microdeletion Expression of Concern for this paper has been published

Published
2008

32. Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis

Author

Robinson, Peter N., primary, Neumann, Luitgard M., additional, Demuth, Stephanie, additional, Enders, Herbert, additional, Jung, Ursula, additional, König, Rainer, additional, Mitulla, Beate, additional, Müller, Dietmar, additional, Muschke, Petra, additional, Pfeiffer, Lutz, additional, Prager, Bettina, additional, Somer, Mirja, additional, and Tinschert, Sigrid, additional

Published
2005
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37. Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment.

Author

Mirastschijski, Ursula, Altmann, Silke, Lenz-Scharf, Olivia, Muschke, Petra, and Schneider, Wolfgang

Subjects
CASE studies, INFANT diseases, HUMAN abnormalities, HYPERPLASIA, HAMARTOMA, PROTEUS syndrome
Abstract

Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration. [ABSTRACT FROM AUTHOR]

Published
2012
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39. Further delineation of Wittwer syndrome and refinement of the mapping region

Author

Wieland, Ilse, Muschke, Petra, and Wieacker, Peter

Abstract

In 1996, Wittwer et al. described a XLMR-syndrome mapping in Xp22.3. This family was reexamined. The spectrum of clinical symptoms now includes progressive skeletal lesions with osteoplastic and osteoclastic changes. Haplotype analysis using 23 microsatellite markers on Xp22 localized the disease locus between DXS8095 and DXS7108 comprising 3.9–6.1 Mb. This interval overlaps with known contiguous gene-deletion syndromes. However, deletion analysis of identified genes and ESTs in the critical interval for Wittwer syndrome showed no loss of the corresponding marker sequences in the patients. © 2002 Wiley-Liss, Inc.

Published
2003
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40. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Author

Krieger, Michael, Roos, Andreas, Stendel, Claudia, Claeys, Kristl G., Sonmez, Fatma Mujgan, Baudis, Michael, Bauer, Peter, Bornemann, Antje, de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Kingston, Helen, Kirschner, Janbernd, Medne, Livija, Muschke, Petra, Rivier, François, Rudnik-Schöneborn, Sabine, Spengler, Sabrina, Inzana, Francesca, Stanzial, Franco, Benedicenti, Francesco, Synofzik, Matthis, Lia Taratuto, Ana, Pirra, Laura, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Williams, Denise, Zerres, Klaus, Weis, Joachim, Senderek, Jan, Krieger, Michael, Roos, Andreas, Stendel, Claudia, Claeys, Kristl G., Sonmez, Fatma Mujgan, Baudis, Michael, Bauer, Peter, Bornemann, Antje, de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Kingston, Helen, Kirschner, Janbernd, Medne, Livija, Muschke, Petra, Rivier, François, Rudnik-Schöneborn, Sabine, Spengler, Sabrina, Inzana, Francesca, Stanzial, Franco, Benedicenti, Francesco, Synofzik, Matthis, Lia Taratuto, Ana, Pirra, Laura, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Williams, Denise, Zerres, Klaus, Weis, Joachim, and Senderek, Jan

Abstract

Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be missi

42. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Author

Manuela Napoli, Isabella Mammi, Jeroen Breckpot, Stefano Giuseppe Caraffi, Gioacchino Scarano, Rikke S. Møller, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Daniela Santodirocco, Sébastien Moutton, Didier Lacombe, Aurélien Trimouille, Maria Luisa Poch-Olive, Chiara Pantaleoni, Roberta Epifanio, Allan Bayat, Massimo Maggi, Margaret P. Adam, Alessandro Iodice, Francesca Faravelli, Livia Garavelli, William B. Dobyns, Patrizia Accorsi, Olivera Djuric, Francesca Rivieri, Nicoletta Zanotta, Elvis Terci Valera, Alex R. Paciorkowski, Debora Formisano, Marina Grasso, Marzia Pollazzon, Koenraad Devriendt, Rosario Pascarella, Giovanni Sorge, Bert Callewaert, Alessandro Pellicciari, Petra Muschke, Luigi Tarani, Chiara Baldo, Luis G. Tone, Sabine Grønborg, Guido Cocchi, Federico Raviglione, Carmela Russo, Lorenzo Iughetti, Angelo Selicorni, Federico Bonvicini, Lucio Giordano, Duccio Maria Cordelli, Salvatore Savasta, Baris Malbora, Margherita Silengo, Ivan Ivanovski, Elga Fabia Belligni, Goran Cuturilo, Marcella Zollino, Annick Toutain, Mary Beth Dinulos, Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grã¸nborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Bari, Mammi, Isabella, Moutton, Sebastien, Mã¸ller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, and Paciorkowski, Alex R.

Subjects
0301 basic medicine, Male, Pathology, Microcephaly, brain MRI, Haploinsufficiency, Mowat-Wilson, Corpus callosum, Settore MED/03 - GENETICA MEDICA, Cohort Studies, Epilepsy, BOX 1B GENE, 0302 clinical medicine, ZFHX1B SIP1, Medicine and Health Sciences, Mowat–Wilson syndrome, Mowat-Wilson syndrome, Original Research Article, Longitudinal Studies, Child, Genetics (clinical), ZEB2, medicine.diagnostic_test, Brain, genotype–phenotype correlation, Magnetic Resonance Imaging, agenesis of corpus callosum, 3. Good health, Phenotype, Child, Preschool, Microcephaly/diagnostic imaging, Female, EXPRESSION, medicine.medical_specialty, Genotype, NEUROIMAGEM, Neuroimaging, genotype-phenotype correlation, Intellectual Disability/diagnostic imaging, Hirschsprung Disease/diagnostic imaging, Epilepsy/pathology, 03 medical and health sciences, Disability, Congenital malformations, ZEB2 gene, Intellectual Disability, medicine, Journal Article, Humans, Hirschsprung Disease, Zinc Finger E-box Binding Homeobox 2, SMAD-INTERACTING PROTEIN-1, Corpus Callosum Agenesis, business.industry, MUTATIONS, CENTRAL-NERVOUS-SYSTEM, Facies, Infant, Magnetic resonance imaging, HIRSCHSPRUNG-DISEASE, medicine.disease, Brain/diagnostic imaging, Zinc Finger E-box Binding Homeobox 2/genetics, 030104 developmental biology, genesis of corpus callosum, business, CHARACTERISTIC FACIAL FEATURES, 030217 neurology & neurosurgery, MENTAL-RETARDATION
Abstract

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.METHODS: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.RESULTS: Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis.CONCLUSION: This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online publication 10 November 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.176.

Published
2017

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