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1. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Author

Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L. E. Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K., and Bryant, Laura M.

Published
2024
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2. Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Author

Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L. E., Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K., and Bryant, Laura M.

Published
2024
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3. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Author

Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, and Arboleda, Valerie A

Subjects
Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry
Abstract

The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.

Published
2021

4. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Author

Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, and Vitobello, Antonio

Published
2023
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5. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

Author

Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., and Antonarakis, Stylianos E.

Published
2023
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6. Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1)

Author

Genetica, Genetica Klinische Genetica, Child Health, Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J.M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A., Vuillaume, Marie Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L.E., Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J.K., Bryant, Laura M., Genetica, Genetica Klinische Genetica, Child Health, Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J.M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A., Vuillaume, Marie Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L.E., Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J.K., and Bryant, Laura M.

Published
2024

7. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Author

Genetica Klinische Genetica, Child Health, Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M, Genetica Klinische Genetica, Child Health, Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, and Bryant, Laura M

Published
2024

8. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Author

Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020
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10. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Author

Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, and Biesecker, Leslie G

Published
2018
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11. Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

Author

Roof, Elizabeth, primary, Deal, Cheri L, additional, McCandless, Shawn E, additional, Cowan, Ronald L, additional, Miller, Jennifer L, additional, Hamilton, Jill K, additional, Roeder, Elizabeth R, additional, McCormack, Shana E, additional, Roshan Lal, Tamanna R, additional, Abdul-Latif, Hussein D, additional, Haqq, Andrea M, additional, Obrynba, Kathryn S, additional, Torchen, Laura C, additional, Vidmar, Alaina P, additional, Viskochil, David H, additional, Chanoine, Jean-Pierre, additional, Lam, Carol K L, additional, Pierce, Melinda J, additional, Williams, Laurel L, additional, Bird, Lynne M, additional, Butler, Merlin G, additional, Jensen, Diane E, additional, Myers, Susan E, additional, Oatman, Oliver J, additional, Baskaran, Charumathi, additional, Chalmers, Laura J, additional, Fu, Cary, additional, Alos, Nathalie, additional, McLean, Scott D, additional, Shah, Ajay, additional, Whitman, Barbara Y, additional, Blumenstein, Brent A, additional, Leonard, Sarah F, additional, Ernest, Jessica P, additional, Cormier, Joseph W, additional, Cotter, Sara P, additional, and Ryman, Davis C, additional

Published
2023
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12. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Author

Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A. Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020
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13. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Author

Bi, Weimin, primary, Yuan, Bo, additional, Liu, Pengfei, additional, Murry, Jaclyn B, additional, Qin, Xiang, additional, Xia, Fan, additional, Quach, Thao, additional, Cooper, Lance M, additional, Wiszniewska, Joanna, additional, Hixson, Patricia, additional, Peacock, Sandra, additional, Tonk, Vijay S, additional, Huff, Robert W, additional, Ortega, Veronica, additional, Lupski, James R, additional, Scherer, Steven E, additional, Littlejohn, Rebecca Okashah, additional, Velagaleti, Gopalrao V N, additional, Roeder, Elizabeth R, additional, and Cheung, Sau Wai, additional

Published
2022
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14. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.

Author

Weimin Bi, Bo Yuan, Pengfei Liu, Murry, Jaclyn B., Xiang Qin, Fan Xia, Thao Quach, Cooper, Lance M., Wiszniewska, Joanna, Hixson, Patricia, Peacock, Sandra, Tonk, Vijay S., Huff, Robert W., Ortega, Veronica, Lupski, James R., Scherer, Steven E., Littlejohn, Rebecca Okashah, Velagaleti, Gopalrao V. N., Roeder, Elizabeth R., and Sau Wai Cheung

Abstract

Background: Mosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited. Methods: We performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chromosome 8 (der(8)), resulting from an unbalanced translocation between the long arms of chromosomes 8 and 21 over three generations. Results: The proband and his maternal half-sister had mosaicism for a der(8) cell line leading to trisomy of the distal 21q, and both had Down syndrome phenotypic features. Mosaicism for a cell line with the der(8) and a normal cell line was also detected in a maternal half-cousin. The der(8) was inherited from the maternal grandmother who had four abnormal cell lines containing the der(8), in addition to a normal cell line. One maternal half-aunt had the der(8) and an isodicentric chromosome 21 (idic(21)). Sequencing studies revealed microhomologies at the junctures of the der(8) and idic(21) in the half-aunt, suggesting a replicative mechanism in the rearrangement formation. Furthermore, interstitial telomeric sequences (ITS) were identified in the juncture between chromosomes 8 and 21 in the der(8). Conclusion: Mosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. The reversion of the inherited der(8) to a normal chromosome 8 in this family resembles revertant mosaicism of point mutations. We propose that ITS could mediate recurring revertant mosaicism for some constitutional chromosomal structural abnormalities. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Author

Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V., Akdemir, Kadir Caner, Jhangiani, Shalini N., Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A., Sebastian, Jessica, Madan-Khetarpal, Suneeta, Surti, Urvashi, Abellar, Rosanna G., Bateman, David A., Wilson, Ashley L., Markham, Melinda H., Slamon, Jill, Santos-Simarro, Fernando, Palomares, María, Nevado, Julián, Lapunzina, Pablo, Chung, Brian Hon-Yin, Wong, Wai-Lap, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Kerem, Eitan, Reiter, Joel, Ambalavanan, Namasivayam, Anderson, Scott A., Kelly, David R., Shieh, Joseph, Rosenthal, Taryn C., Scheible, Kristin, Steiner, Laurie, Iqbal, M. Anwar, McKinnon, Margaret L., Hamilton, Sara Jane, Schlade-Bartusiak, Kamilla, English, Dawn, Hendson, Glenda, Roeder, Elizabeth R., DeNapoli, Thomas S., Littlejohn, Rebecca Okashah, Wolff, Daynna J., Wagner, Carol L., Yeung, Alison, Francis, David, Fiorino, Elizabeth K., Edelman, Morris, Fox, Joyce, Hayes, Denise A., Janssens, Sandra, De Baere, Elfride, Menten, Björn, Loccufier, Anne, Vanwalleghem, Lieve, Moerman, Philippe, Sznajer, Yves, Lay, Amy S., Kussmann, Jennifer L., Chawla, Jasneek, Payton, Diane J., Phillips, Gael E., Brosens, Erwin, Tibboel, Dick, de Klein, Annelies, Maystadt, Isabelle, Fisher, Richard, Sebire, Neil, Male, Alison, Chopra, Maya, Pinner, Jason, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Lees, Melissa, Mead, Zoe, Quarrell, Oliver, Sayers, Richard, Owens, Martina, Shaw-Smith, Charles, Lioy, Janet, McKay, Eileen, de Leeuw, Nicole, Feenstra, Ilse, Spruijt, Liesbeth, Elmslie, Frances, Thiruchelvam, Timothy, Bacino, Carlos A., Langston, Claire, Lupski, James R., Sen, Partha, Popek, Edwina, and Stankiewicz, Paweł

Published
2016
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16. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Author

Bi, Weimin, Yuan, Bo, Liu, Pengfei, Murry, Jaclyn B, Qin, Xiang, Xia, Fan, Quach, Thao, Cooper, Lance M, Wiszniewska, Joanna, Hixson, Patricia, Peacock, Sandra, Tonk, Vijay S, Huff, Robert W, Ortega, Veronica, Lupski, James R, Scherer, Steven E, Littlejohn, Rebecca Okashah, Velagaleti, Gopalrao V N, Roeder, Elizabeth R, and Cheung, Sau Wai

Abstract

BackgroundMosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited.MethodsWe performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chromosome 8 (der(8)), resulting from an unbalanced translocation between the long arms of chromosomes 8 and 21 over three generations.ResultsThe proband and his maternal half-sister had mosaicism for a der(8) cell line leading to trisomy of the distal 21q, and both had Down syndrome phenotypic features. Mosaicism for a cell line with the der(8) and a normal cell line was also detected in a maternal half-cousin. The der(8) was inherited from the maternal grandmother who had four abnormal cell lines containing the der(8), in addition to a normal cell line. One maternal half-aunt had the der(8) and an isodicentric chromosome 21 (idic(21)). Sequencing studies revealed microhomologies at the junctures of the der(8) and idic(21) in the half-aunt, suggesting a replicative mechanism in the rearrangement formation. Furthermore, interstitial telomeric sequences (ITS) were identified in the juncture between chromosomes 8 and 21 in the der(8).ConclusionMosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. The reversion of the inherited der(8) to a normal chromosome 8 in this family resembles revertant mosaicism of point mutations. We propose that ITS could mediate recurring revertant mosaicism for some constitutional chromosomal structural abnormalities.

Published
2023
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17. Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Author

Spinelli, Egidio, primary, Christensen, Kyle R, additional, Bryant, Emily, additional, Schneider, Amy, additional, Rakotomamonjy, Jennifer, additional, Muir, Alison M, additional, Giannelli, Jessica, additional, Littlejohn, Rebecca O, additional, Roeder, Elizabeth R, additional, Schmidt, Berkley, additional, Wilson, William G, additional, Marco, Elysa J, additional, Iwama, Kazuhiro, additional, Kumada, Satoko, additional, Pisano, Tiziano, additional, Barba, Carmen, additional, Brilstra, Eva H, additional, van Jaarsveld, Richard H, additional, Matsumoto, Naomichi, additional, Rodan, Lance H, additional, McWalter, Kirsty, additional, Guerrini, Renzo, additional, Scheffer, Ingrid E, additional, Mefford, Heather C, additional, Mandelstam, Simone, additional, Laux, Linda, additional, Millichap, John J, additional, Guemez-Gamboa, Alicia, additional, Nairn, Angus C, additional, and Carvill, Gemma L, additional

Published
2021
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18. Variants in the SK₂ channel gene (KCNN₂) lead to dominant neurodevelopmental movement disorders

Author

Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N., Helbig, Katherine L., Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S., Huisman, Sylvia A., Wilson, Golder N., Cathey, Sara S, Louie, Raymond J., Del Gaudio, Daniela, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M., Roeder, Elizabeth R., Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, and Depienne, Christel

Subjects
Human medicine, Biology
Abstract

KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely unknown. Using exome sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilities, cerebellar ataxia and white matter abnormalities on brain MRI. This discovery prompted us to collect data from nine additional patients with de novo KCNN2 variants (one nonsense, one splice site, six missense variants and one in-frame deletion) and one family with a missense variant inherited from the affected mother. We investigated the functional impact of six selected variants on SK2 channel function using the patch-clamp technique. All variants tested but one, which was reclassified to uncertain significance, led to a loss-of-function of SK2 channels. Patients with KCNN2 variants had motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms. Altogether, our findings provide evidence that heterozygous variants, likely causing a haploinsufficiency of the KCNN2 gene, lead to novel autosomal dominant neurodevelopmental movement disorders mirroring phenotypes previously described in rodents.

Published
2020

19. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Author

Genetica, Genetica Klinische Genetica, Child Health, Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine, Genetica, Genetica Klinische Genetica, Child Health, Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020

20. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Author

Genetica Klinische Genetica, Child Health, Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A.Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine, Genetica Klinische Genetica, Child Health, Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A.Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020

21. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D, van Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R, Littlejohn, Rebecca O, Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T, Jenkins, Janda L, Saunders, Carol J, Thiffault, Isabelle, Alaimo, Joseph T, Fleischer, Julie, Groepper, Daniel, Gripp, Karen W, Chung, Wendy K, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D, van Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R, Littlejohn, Rebecca O, Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T, Jenkins, Janda L, Saunders, Carol J, Thiffault, Isabelle, Alaimo, Joseph T, Fleischer, Julie, Groepper, Daniel, Gripp, Karen W, and Chung, Wendy K

Published
2020

22. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Author

Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Bi, Weimin, Carvalho, Claudia M. B., Simmons, Alexandra D., Wiszniewska, Joanna, Fang, Ping, Eng, Patricia A., Cooper, M. Lance, Sutton, V. Reid, Roeder, Elizabeth R., Bodensteiner, John B., Delgado, Mauricio R., Prakash, Siddharth K., Belmont, John W., Stankiewicz, Pawel, Berg, Jonathan S., Shinawi, Marwan, Patel, Ankita, Cheung, Sau Wai, and Lupski, James R.

Published
2011
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23. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Author

Chilton, Ilana, primary, Okur, Volkan, additional, Vitiello, Giuseppina, additional, Selicorni, Angelo, additional, Mariani, Milena, additional, Goldenberg, Alice, additional, Husson, Thomas, additional, Campion, Dominique, additional, Lichtenbelt, Klaske D., additional, Gassen, Koen, additional, Steinraths, Michelle, additional, Rice, Jennifer, additional, Roeder, Elizabeth R., additional, Littlejohn, Rebecca O., additional, Srour, Myriam, additional, Sebire, Guillaume, additional, Accogli, Andrea, additional, Héron, Delphine, additional, Heide, Solveig, additional, Nava, Caroline, additional, Depienne, Christel, additional, Larson, Austin, additional, Niyazov, Dmitriy, additional, Azage, Meron, additional, Hoganson, George, additional, Burton, Jennifer, additional, Rush, Eric T., additional, Jenkins, Janda L., additional, Saunders, Carol J., additional, Thiffault, Isabelle, additional, Alaimo, Joseph T., additional, Fleischer, Julie, additional, Groepper, Daniel, additional, Gripp, Karen W., additional, and Chung, Wendy K., additional

Published
2020
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25. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Author

Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, and Lupski, James R

Published
2010
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27. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Author

Spinelli, Egidio, Christensen, Kyle R., Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M., Giannelli, Jessica, Littlejohn, Rebecca O., Roeder, Elizabeth R., Schmidt, Berkley, Wilson, William G., Marco, Elysa J., Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H., van Jaarsveld, Richard H., and Matsumoto, Naomichi

Subjects
EPILEPSY, NEUROLOGICAL disorders, CORPUS callosum, FETAL development, COMPLEMENTARY DNA, RESEARCH, GENETICS, NERVE tissue proteins, ANIMAL experimentation, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, TRANSFERASES, RESEARCH funding, AMINO acids, EPITHELIAL cells, MICE, LONGITUDINAL method
Abstract

Objective: The MAST family of microtubule-associated serine-threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated with neurological disease, with de novo variants in individuals with a neurodevelopmental disorder, including a mega corpus callosum.Methods: Using exome sequencing, we identify MAST3 missense variants in individuals with epilepsy. We also assess the effect of these variants on the ability of MAST3 to phosphorylate the target gene product ARPP-16 in HEK293T cells.Results: We identify de novo missense variants in the STK domain in 11 individuals, including 2 recurrent variants p.G510S (n = 5) and p.G515S (n = 3). All 11 individuals had developmental and epileptic encephalopathy, with 8 having normal development prior to seizure onset at <2 years of age. All patients developed multiple seizure types, 9 of 11 patients had seizures triggered by fever and 9 of 11 patients had drug-resistant seizures. In vitro analysis of HEK293T cells transfected with MAST3 cDNA carrying a subset of these patient-specific missense variants demonstrated variable but generally lower expression, with concomitant increased phosphorylation of the MAST3 target, ARPP-16, compared to wild-type. These findings suggest the patient-specific variants may confer MAST3 gain-of-function. Moreover, single-nuclei RNA sequencing and immunohistochemistry shows that MAST3 expression is restricted to excitatory neurons in the cortex late in prenatal development and postnatally.Interpretation: In summary, we describe MAST3 as a novel epilepsy-associated gene with a potential gain-of-function pathogenic mechanism that may be primarily restricted to excitatory neurons in the cortex. ANN NEUROL 2021;90:274-284. [ABSTRACT FROM AUTHOR]

Published
2021
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28. Mutation update for the SATB2 gene

Author

Zarate, Yuri A., primary, Bosanko, Katherine A., additional, Caffrey, Aislling R., additional, Bernstein, Jonathan A., additional, Martin, Donna M., additional, Williams, Marc S., additional, Berry‐Kravis, Elizabeth M., additional, Mark, Paul R., additional, Manning, Melanie A., additional, Bhambhani, Vikas, additional, Vargas, Marcelo, additional, Seeley, Andrea H., additional, Estrada‐Veras, Juvianee I., additional, Dooren, Marieke F., additional, Schwab, Maria, additional, Vanderver, Adeline, additional, Melis, Daniela, additional, Alsadah, Adnan, additional, Sadler, Laurie, additional, Esch, Hilde, additional, Callewaert, Bert, additional, Oostra, Ann, additional, Maclean, Jane, additional, Dentici, Maria Lisa, additional, Orlando, Valeria, additional, Lipson, Mark, additional, Sparagana, Steven P., additional, Maarup, Timothy J., additional, Alsters, Suzanne IM, additional, Brautbar, Ariel, additional, Thropp, Eliana Kovitch, additional, Naidu, Sakkubai, additional, Lees, Melissa, additional, Smith, Douglas M., additional, Turner, Lesley, additional, Raggio, Víctor, additional, Spangenberg, Lucía, additional, Garcia‐Miñaúr, Sixto, additional, Roeder, Elizabeth R., additional, Littlejohn, Rebecca O., additional, Grange, Dorothy, additional, Pfotenhauer, Jean, additional, Jones, Marilyn C., additional, Balasubramanian, Meena, additional, Martinez‐Monseny, Antonio, additional, Blok, Lot Snijders, additional, Gavrilova, Ralitza, additional, and Fish, Jennifer L., additional

Published
2019
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29. Identification of novel candidate disease genes from de novo exonic copy number variants

Author

Gambin, Tomasz, primary, Yuan, Bo, additional, Bi, Weimin, additional, Liu, Pengfei, additional, Rosenfeld, Jill A., additional, Coban-Akdemir, Zeynep, additional, Pursley, Amber N., additional, Nagamani, Sandesh C. S., additional, Marom, Ronit, additional, Golla, Sailaja, additional, Dengle, Lauren, additional, Petrie, Heather G., additional, Matalon, Reuben, additional, Emrick, Lisa, additional, Proud, Monica B., additional, Treadwell-Deering, Diane, additional, Chao, Hsiao-Tuan, additional, Koillinen, Hannele, additional, Brown, Chester, additional, Urraca, Nora, additional, Mostafavi, Roya, additional, Bernes, Saunder, additional, Roeder, Elizabeth R., additional, Nugent, Kimberly M., additional, Bader, Patricia I., additional, Bellus, Gary, additional, Cummings, Michael, additional, Northrup, Hope, additional, Ashfaq, Myla, additional, Westman, Rachel, additional, Wildin, Robert, additional, Beck, Anita E., additional, Immken, LaDonna, additional, Elton, Lindsay, additional, Varghese, Shaun, additional, Buchanan, Edward, additional, Faivre, Laurence, additional, Lefebvre, Mathilde, additional, Schaaf, Christian P., additional, Walkiewicz, Magdalena, additional, Yang, Yaping, additional, Kang, Sung-Hae L., additional, Lalani, Seema R., additional, Bacino, Carlos A., additional, Beaudet, Arthur L., additional, Breman, Amy M., additional, Smith, Janice L., additional, Cheung, Sau Wai, additional, Lupski, James R., additional, Patel, Ankita, additional, Shaw, Chad A., additional, and Stankiewicz, Paweł, additional

Published
2017
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30. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Author

Braun, Daniela A, primary, Rao, Jia, additional, Mollet, Geraldine, additional, Schapiro, David, additional, Daugeron, Marie-Claire, additional, Tan, Weizhen, additional, Gribouval, Olivier, additional, Boyer, Olivia, additional, Revy, Patrick, additional, Jobst-Schwan, Tilman, additional, Schmidt, Johanna Magdalena, additional, Lawson, Jennifer A, additional, Schanze, Denny, additional, Ashraf, Shazia, additional, Ullmann, Jeremy F P, additional, Hoogstraten, Charlotte A, additional, Boddaert, Nathalie, additional, Collinet, Bruno, additional, Martin, Gaëlle, additional, Liger, Dominique, additional, Lovric, Svjetlana, additional, Furlano, Monica, additional, Guerrera, I Chiara, additional, Sanchez-Ferras, Oraly, additional, Hu, Jennifer F, additional, Boschat, Anne-Claire, additional, Sanquer, Sylvia, additional, Menten, Björn, additional, Vergult, Sarah, additional, De Rocker, Nina, additional, Airik, Merlin, additional, Hermle, Tobias, additional, Shril, Shirlee, additional, Widmeier, Eugen, additional, Gee, Heon Yung, additional, Choi, Won-Il, additional, Sadowski, Carolin E, additional, Pabst, Werner L, additional, Warejko, Jillian K, additional, Daga, Ankana, additional, Basta, Tamara, additional, Matejas, Verena, additional, Scharmann, Karin, additional, Kienast, Sandra D, additional, Behnam, Babak, additional, Beeson, Brendan, additional, Begtrup, Amber, additional, Bruce, Malcolm, additional, Ch'ng, Gaik-Siew, additional, Lin, Shuan-Pei, additional, Chang, Jui-Hsing, additional, Chen, Chao-Huei, additional, Cho, Megan T, additional, Gaffney, Patrick M, additional, Gipson, Patrick E, additional, Hsu, Chyong-Hsin, additional, Kari, Jameela A, additional, Ke, Yu-Yuan, additional, Kiraly-Borri, Cathy, additional, Lai, Wai-ming, additional, Lemyre, Emmanuelle, additional, Littlejohn, Rebecca Okashah, additional, Masri, Amira, additional, Moghtaderi, Mastaneh, additional, Nakamura, Kazuyuki, additional, Ozaltin, Fatih, additional, Praet, Marleen, additional, Prasad, Chitra, additional, Prytula, Agnieszka, additional, Roeder, Elizabeth R, additional, Rump, Patrick, additional, Schnur, Rhonda E, additional, Shiihara, Takashi, additional, Sinha, Manish D, additional, Soliman, Neveen A, additional, Soulami, Kenza, additional, Sweetser, David A, additional, Tsai, Wen-Hui, additional, Tsai, Jeng-Daw, additional, Topaloglu, Rezan, additional, Vester, Udo, additional, Viskochil, David H, additional, Vatanavicharn, Nithiwat, additional, Waxler, Jessica L, additional, Wierenga, Klaas J, additional, Wolf, Matthias T F, additional, Wong, Sik-Nin, additional, Leidel, Sebastian A, additional, Truglio, Gessica, additional, Dedon, Peter C, additional, Poduri, Annapurna, additional, Mane, Shrikant, additional, Lifton, Richard P, additional, Bouchard, Maxime, additional, Kannu, Peter, additional, Chitayat, David, additional, Magen, Daniella, additional, Callewaert, Bert, additional, van Tilbeurgh, Herman, additional, Zenker, Martin, additional, Antignac, Corinne, additional, and Hildebrandt, Friedhelm, additional

Published
2017
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31. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Author

Yan, Kezhi, primary, Rousseau, Justine, additional, Littlejohn, Rebecca Okashah, additional, Kiss, Courtney, additional, Lehman, Anna, additional, Rosenfeld, Jill A., additional, Stumpel, Constance T.R., additional, Stegmann, Alexander P.A., additional, Robak, Laurie, additional, Scaglia, Fernando, additional, Nguyen, Thi Tuyet Mai, additional, Fu, He, additional, Ajeawung, Norbert F., additional, Camurri, Maria Vittoria, additional, Li, Lin, additional, Gardham, Alice, additional, Panis, Bianca, additional, Almannai, Mohammed, additional, Sacoto, Maria J. Guillen, additional, Baskin, Berivan, additional, Ruivenkamp, Claudia, additional, Xia, Fan, additional, Bi, Weimin, additional, Cho, Megan T., additional, Potjer, Thomas P., additional, Santen, Gijs W.E., additional, Parker, Michael J., additional, Canham, Natalie, additional, McKinnon, Margaret, additional, Potocki, Lorraine, additional, MacKenzie, Jennifer J., additional, Roeder, Elizabeth R., additional, Campeau, Philippe M., additional, and Yang, Xiang-Jiao, additional

Published
2017
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32. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Author

Gennarino, Vincenzo A, primary, Alcott, Callison E, additional, Chen, Chun-An, additional, Chaudhury, Arindam, additional, Gillentine, Madelyn A, additional, Rosenfeld, Jill A, additional, Parikh, Sumit, additional, Wheless, James W, additional, Roeder, Elizabeth R, additional, Horovitz, Dafne DG, additional, Roney, Erin K, additional, Smith, Janice L, additional, Cheung, Sau W, additional, Li, Wei, additional, Neilson, Joel R, additional, Schaaf, Christian P, additional, and Zoghbi, Huda Y, additional

Published
2015
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33. Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Author

Gennarino, Vincenzo A, primary, Alcott, Callison E, additional, Chen, Chun-An, additional, Chaudhury, Arindam, additional, Gillentine, Madelyn A, additional, Rosenfeld, Jill A, additional, Parikh, Sumit, additional, Wheless, James W, additional, Roeder, Elizabeth R, additional, Horovitz, Dafne DG, additional, Roney, Erin K, additional, Smith, Janice L, additional, Cheung, Sau W, additional, Li, Wei, additional, Neilson, Joel R, additional, Schaaf, Christian P, additional, and Zoghbi, Huda Y, additional

Published
2015
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34. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Author

Ou, Zhishuo, primary, Stankiewicz, Paweł, additional, Xia, Zhilian, additional, Breman, Amy M., additional, Dawson, Brian, additional, Wiszniewska, Joanna, additional, Szafranski, Przemyslaw, additional, Cooper, M. Lance, additional, Rao, Mitchell, additional, Shao, Lina, additional, South, Sarah T., additional, Coleman, Karlene, additional, Fernhoff, Paul M., additional, Deray, Marcel J., additional, Rosengren, Sally, additional, Roeder, Elizabeth R., additional, Enciso, Victoria B., additional, Chinault, A. Craig, additional, Patel, Ankita, additional, Kang, Sung-Hae L., additional, Shaw, Chad A., additional, Lupski, James R., additional, and Cheung, Sau W., additional

Published
2011
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35. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Author

Brunetti-Pierri, Nicola, primary, Berg, Jonathan S, additional, Scaglia, Fernando, additional, Belmont, John, additional, Bacino, Carlos A, additional, Sahoo, Trilochan, additional, Lalani, Seema R, additional, Graham, Brett, additional, Lee, Brendan, additional, Shinawi, Marwan, additional, Shen, Joseph, additional, Kang, Sung-Hae L, additional, Pursley, Amber, additional, Lotze, Timothy, additional, Kennedy, Gail, additional, Lansky-Shafer, Susan, additional, Weaver, Christine, additional, Roeder, Elizabeth R, additional, Grebe, Theresa A, additional, Arnold, Georgianne L, additional, Hutchison, Terry, additional, Reimschisel, Tyler, additional, Amato, Stephen, additional, Geragthy, Michael T, additional, Innis, Jeffrey W, additional, Obersztyn, Ewa, additional, Nowakowska, Beata, additional, Rosengren, Sally S, additional, Bader, Patricia I, additional, Grange, Dorothy K, additional, Naqvi, Sayed, additional, Garnica, Adolfo D, additional, Bernes, Saunder M, additional, Fong, Chin-To, additional, Summers, Anne, additional, Walters, W David, additional, Lupski, James R, additional, Stankiewicz, Pawel, additional, Cheung, Sau Wai, additional, and Patel, Ankita, additional

Published
2008
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41. Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases

Author

Hsu, Wei-Tong, primary, Shchepin, Dmitriy A., additional, Mao, Rong, additional, Berry-Kravis, Elizabeth, additional, Garber, Ann P., additional, Fischel-Ghodsian, Nathan, additional, Falk, Rena E., additional, Carlson, Dru E., additional, Roeder, Elizabeth R., additional, Leeth, Elizabeth A., additional, Hajianpour, M.J., additional, Wang, Jin-Chen C., additional, Rosenblum-Vos, Lynne S., additional, Bhatt, Sucheta D., additional, Karson, Evelyn M., additional, Hux, Charles H., additional, Trunca, Carolyn, additional, Bialer, Martin G., additional, Linn, Sandra K., additional, and Schreck, Rhona R., additional

Published
1998
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44. Exclusion of the branchio-oto-renal syndrome locus (<TOGGLE>EYA1</TOGGLE>) from patients with branchio-oculo-facial syndrome

Author

Lin, Angela E., Semina, Elena V., Daack-Hirsch, Sandra, Roeder, Elizabeth R., Curry, Cynthia J.R., Rosenbaum, Kenneth, Weaver, David D., and Murray, Jeffrey C.

Abstract

In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). Although the BOF and BOR syndromes are sufficiently distinctive that they should not be confused, both can be associated with nasolacrimal duct stenosis, deafness, prehelical pits, malformed pinna, and renal anomalies. Furthermore, a reported father and son [Legius et al., 1990, Clin Genet 37:347–500] had features of both conditions. It was not clear whether they had an atypical presentation of either BOR or BOF syndrome, or represented a private syndrome. In light of these issues, we selected the BOR locus (EYA1) as a possible gene mutation for the BOF syndrome. In five BOF patients, there were no mutations detected in the EYA1 gene, suggesting that it is not allelic to the BOR syndrome. Am. J. Med. Genet. 91:387–390, 2000. © 2000 Wiley-Liss, Inc.

Published
2000
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45. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Author

Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello, Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, Leblanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, Mcconkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, and Vitobello, Antonio

Subjects
SRSF1, splicing, epigenetic signature, Medicine and Health Sciences, Genetics, Drosophila, neurodevelopmental disorder, Genetics (clinical), haploinsufficiency
Abstract

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neurodevelopmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investigate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.

Published
2023

46. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Author

Zhishuo Ou, Stankiewicz, Paweł, Zhilian Xia, Breman, Amy M., Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M. Lance, Rao, Mitchell, Shao, Lina, South, Sarah T., Coleman, Karlene, Fernhoff, Paul M., Deray, Marcel J., Rosengren, Sally, Roeder, Elizabeth R., Enciso, Victoria B., Chinault, A. Craig, Patel, Ankita, and Sung-Hae L. Kang

Subjects
*CHROMOSOMES, *GENETIC recombination, *HUMAN chromosomes, *HUMAN genome, *NUCLEOTIDE sequence
Abstract

Four unrelated families with the same unbalanced translocation der(4)t(4;11)(p16.2;p15.4) were analyzed. Both of the breakpoint regions in 4p16.2 and 11p15.4 were narrowed to large ⇔1/4359-kb and ⇔1/4215-kb low-copy repeat (LCR) clusters, respectively, by aCGH and SNP array analyses. DNA sequencing enabled mapping the breakpoints of one translocation to 24 bp within interchromosomal paralogous LCRs of ⇔1/4130 kb in length and 94.7% DNA sequence identity located in olfactory receptor gene clusters, indicating nonallelic homologous recombination (NAHR) as the mechanism for translocation formation. To investigate the potential involvement of interchromosomal LCRs in recurrent chromosomal translocation formation, we performed computational genome-wide analyses and identified 1143 interchromosomal LCR substrate pairs, >5 kb in size and sharing >94% sequence identity that can potentially mediate chromosomal translocations. Additional evidence for interchromosomal NAHR mediated translocation formation was provided by sequencing the breakpoints of another recurrent translocation, der(8)t(8;12)(p23.1;p13.31). The NAHR sites were mapped within 55 bp in ⇔1/47.8-kb paralogous subunits of 95.3% sequence identity located in the ⇔1/4579-kb (chr 8) and ⇔1/4287-kb (chr 12) LCR clusters. We demonstrate that NAHR mediates recurrent constitutional translocations t(4;11) and t(8;12) and potentially many other interchromosomal translocations throughout the human genome. Furthermore, we provide a computationally determined genome-wide "recurrent translocation map." [ABSTRACT FROM AUTHOR]

Published
2011
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