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11. DNM1 encephalopathy

Author

von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio DJ, Sisodiya, Sanjay M, and Helbig, Ingo

Subjects
Neurosciences, Intellectual and Developmental Disabilities (IDD), Genetics, Clinical Research, Brain Disorders, Epilepsy, Pediatric, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Brain Diseases, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Dynamins, Female, GTP Phosphohydrolases, Homeodomain Proteins, Humans, Infant, Male, Microtubule-Associated Proteins, Mitochondrial Proteins, Models, Molecular, Mutation, Phenotype, Short Stature Homeobox Protein, Siblings, Synaptic Vesicles, Young Adult, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.MethodsWe reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.ResultsWe identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function.ConclusionsThe phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.

Published
2017

12. DNM1 encephalopathy: A new disease of vesicle fission.

Author

von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio DJ, Sisodiya, Sanjay M, Helbig, Ingo, Epi4K Consortium, and EuroEPINOMICS-RES NLES Working Group

Subjects
Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Synaptic Vesicles, Humans, Brain Diseases, GTP Phosphohydrolases, Microtubule-Associated Proteins, Homeodomain Proteins, Mitochondrial Proteins, Cohort Studies, DNA Mutational Analysis, Siblings, Phenotype, Mutation, Models, Molecular, Adolescent, Child, Child, Preschool, Infant, Female, Male, Young Adult, Short Stature Homeobox Protein, Dynamins, Models, Molecular, Preschool, Clinical Sciences, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.MethodsWe reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.ResultsWe identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function.ConclusionsThe phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.

Published
2017

13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, and Visser, W Edward

Published
2020
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14. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

Author

Vollger, Mitchell R., primary, Korlach, Jonas, additional, Eldred, Kiara C., additional, Swanson, Elliott, additional, Underwood, Jason G., additional, Munson, Katherine M., additional, Cheng, Yong-Han H., additional, Ranchalis, Jane, additional, Mao, Yizi, additional, Blue, Elizabeth E., additional, Schwarze, Ulrike, additional, Saunders, Christopher T., additional, Wenger, Aaron M., additional, Allworth, Aimee, additional, Chanprasert, Sirisak, additional, Duerden, Brittney L., additional, Glass, Ian, additional, Horike-Pyne, Martha, additional, Kim, Michelle, additional, Leppig, Kathleen A., additional, McLaughlin, Ian J., additional, Ogawa, Jessica, additional, Rosenthal, Elisabeth A., additional, Sheppeard, Sam, additional, Sherman, Stephanie M., additional, Strohbehn, Samuel, additional, Yuen, Amy L., additional, Reh, Thomas A., additional, Byers, Peter H., additional, Bamshad, Michael J., additional, Hisama, Fuki M., additional, Jarvik, Gail P., additional, Sancak, Yasemin, additional, Dipple, Katrina M., additional, and Stergachis, Andrew B., additional

Published
2023
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17. Atypical cases of Angelman syndrome

Author

Lawson‐Yuen, Amy, Wu, Bai‐Lin, Lip, Va, Sahoo, Trilochan, and Kimonis, Virginia

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Mental Health, Pediatric, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Human Genome, Congenital, Angelman Syndrome, Child, Preschool, Chromosomes, Human, Pair 15, Female, Gene Deletion, Gene Dosage, Genomic Imprinting, Humans, Male, Phenotype, Ubiquitin-Protein Ligases, Clinical Sciences, Clinical sciences
Abstract

Angelman syndrome (AS) is a profound disorder notable for mental retardation and severe language deficits that results from lack of function of the maternally inherited copy of the UBE3A gene. Chromosome deletions of 15q11q13, paternal uniparental disomy (UPD), UBE3A gene mutations, and imprinting center defects are all commonly recognized mechanisms that disrupt the function of the maternal copy of the UBE3A gene. We report here two patients with different atypical etiologies of AS. The first patient is a 3-year-old boy with global developmental delay, severe speech deficits, seizures, and very happy disposition. Southern blot analysis for the maternal and paternal chromosome 15 methylation products showed a mosaic methylation pattern, suggesting an imprinting center defect. The second patient is a 4(1/2)-year-old boy with global developmental delay, no expressive language, microcephaly, seizures, and ataxic gait. Array-based comparative genomic hybridization (CGH) demonstrated a loss in copy number for two overlapping clones encompassing the UBE3A gene, indicating a partial deletion within UBE3A. His mother, who was adopted, had an identical pattern, suggesting that her deletion was probably on her paternally imprinted allele. These patients illustrate the expanding spectrum of molecular findings in AS, reinforce the need to maintain suspicion when clinical features suggest AS but initial testing is normal, and show the power of CGH as a tool to uncover partial UBE3A deletions.

Published
2006

18. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Author

Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., and Newbury-Ecob, Ruth A.

Published
2018
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21. Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

Author

De Smit, Elisabeth, Lukowski, Samuel W., Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, Wyse, Bruce, Wheeler, Lawrie, Chen, Christine Y., Cao, Khoa, Wong Ten Yuen, Amy, Shuey, Neil, Clarke, Linda, Lopez Sanchez, Isabel, Hung, Sandy S. C., Pébay, Alice, Mackey, David A., Brown, Matthew A., Hewitt, Alex W., and Powell, Joseph E.

Published
2018
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22. The United Nations After 75: Assessing Current Understandings, Charting Fruitful Research Agendas

Author

Mahmood, Zuhaib, primary, Beardsley, Kyle, additional, Newton, Christopher, additional, Roy, Chhandosi, additional, Kathman, Jacob D., additional, Tucker, Colin, additional, Nomikos, William G., additional, Villa, Danielle N., additional, Binder, Martin, additional, Allen, Susan, additional, Yuen, Amy, additional, Passmore, Timothy J.A., additional, Shannon, Megan, additional, Hultman, Lisa, additional, and Chapman, Terrence L., additional

Published
2022
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25. Reply to Signorino

Author

Carrubba, Clifford J., Yuen, Amy, and Zorn, Christopher

Published
2007

27. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Author

van Geest, Ferdy S, primary, Groeneweg, Stefan, additional, van den Akker, Erica L T, additional, Bacos, Iuliu, additional, Barca, Diana, additional, van den Berg, Sjoerd A A, additional, Bertini, Enrico, additional, Brunner, Doris, additional, Brunetti-Pierri, Nicola, additional, Cappa, Marco, additional, Cappuccio, Gerarda, additional, Chatterjee, Krishna, additional, Chesover, Alexander D, additional, Christian, Peter, additional, Coutant, Régis, additional, Craiu, Dana, additional, Crock, Patricia, additional, Dewey, Cheyenne, additional, Dica, Alice, additional, Dimitri, Paul, additional, Dubey, Rachana, additional, Enderli, Anina, additional, Fairchild, Jan, additional, Gallichan, Jonathan, additional, Garibaldi, Luigi R, additional, George, Belinda, additional, Hackenberg, Annette, additional, Heinrich, Bianka, additional, Huynh, Tony, additional, Kłosowska, Anna, additional, Lawson-Yuen, Amy, additional, Linder-Lucht, Michaela, additional, Lyons, Greta, additional, Monti Lora, Felipe, additional, Moran, Carla, additional, Müller, Katalin E, additional, Paone, Laura, additional, Paul, Praveen G, additional, Polak, Michel, additional, Porta, Francesco, additional, Reinauer, Christina, additional, de Rijke, Yolanda B, additional, Seckold, Rowen, additional, Menevşe, Tuba Seven, additional, Simm, Peter, additional, Simon, Anna, additional, Spada, Marco, additional, Stoupa, Athanasia, additional, Szeifert, Lilla, additional, Tonduti, Davide, additional, van Toor, Hans, additional, Turan, Serap, additional, Vanderniet, Joel, additional, de Waart, Monique, additional, van der Wal, Ronald, additional, van der Walt, Adri, additional, van Wermeskerken, Anne-Marie, additional, Wierzba, Jolanta, additional, Zibordi, Federica, additional, Zung, Amnon, additional, Peeters, Robin P, additional, and Visser, W Edward, additional

Published
2021
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30. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Author

van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Monti Lora, Felipe, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Hans, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, and Visser, W Edward

Published
2022
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31. Additional file 2: of Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

Author

Smit, Elisabeth De, Lukowski, Samuel, Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, Wyse, Bruce, Wheeler, Lawrie, Chen, Christine, Cao, Khoa, Yuen, Amy Wong Ten, Shuey, Neil, Clarke, Linda, Sanchez, Isabel Lopez, Hung, Sandy, PĂŠbay, Alice, Mackey, David, Brown, Matthew, Hewitt, Alex, and Powell, Joseph

Abstract

Figure S1. Quality control metrics for stored specimens. Representative FACS analysis for FITC bound CD4 (A) and APC bound CD8 cells (B). Panel C displays the FACS confirmed purity of all specimens, with case and control samples represented by red and blue triangles respectively. (DOCX 100 kb)

Published
2018
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32. Additional file 1: of Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

Author

Smit, Elisabeth De, Lukowski, Samuel, Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, Wyse, Bruce, Wheeler, Lawrie, Chen, Christine, Cao, Khoa, Yuen, Amy Wong Ten, Shuey, Neil, Clarke, Linda, Sanchez, Isabel Lopez, Hung, Sandy, PĂŠbay, Alice, Mackey, David, Brown, Matthew, Hewitt, Alex, and Powell, Joseph

Abstract

Table S1. Cases recruited and attendance for all 6 time points (DOCX 160 kb)

Published
2018
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33. Additional file 3: of Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

Author

Smit, Elisabeth De, Lukowski, Samuel, Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, Wyse, Bruce, Wheeler, Lawrie, Chen, Christine, Cao, Khoa, Yuen, Amy Wong Ten, Shuey, Neil, Clarke, Linda, Sanchez, Isabel Lopez, Hung, Sandy, PĂŠbay, Alice, Mackey, David, Brown, Matthew, Hewitt, Alex, and Powell, Joseph

Abstract

Figure S2. Effect of batch correction on 195 samples (2 samples of the 197 were removed). Three parameters (Flowcell ID, Gender and Ethnicity) were used to remove confounding effects in edgeR. PC1 contributes the greatest amount of variance and is largely attributed to Flowcell ID, which accounts for most of the variance in sequencing experiments. (DOCX 384 kb)

Published
2018
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36. Adapting the "Unessay" for Use in Computer Science

Author

Aycock, John, primary, Wright, Hannah, additional, Hildebrandt, Jannik, additional, Kenny, David, additional, Lefebvre, Nicole, additional, Lin, Mark, additional, Mamaclay, Maria, additional, Sayson, Shanel, additional, Stewart, Aidan, additional, and Yuen, Amy, additional

Published
2019
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37. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, and Newbury-Ecob, Ruth A

Abstract

Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with HUWE1 variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G > A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, HUWE1 missense variants may cause syndromic ID in both males and females.

Published
2018

38. Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent Giant Cell Arteritis

Author

De Smit, Elisabeth, primary, Lukowski, Samuel W, additional, Anderson, Lisa, additional, Senabouth, Anne, additional, Dauyey, Kaisar, additional, Song, Sharon, additional, Wyse, Bruce, additional, Wheeler, Lawrie, additional, Chen, Christine Y, additional, Cao, Khoa, additional, Yuen, Amy Wong Ten, additional, Shuey, Neil, additional, Clarke, Linda, additional, Sanchez, Isabel Lopez, additional, Hung, Sandy SC, additional, Pébay, Alice, additional, Mackey, David A, additional, Brown, Matthew A, additional, Hewitt, Alex W, additional, and Powell, Joseph E, additional

Published
2018
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39. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Author

Moortgat, Stéphanie, primary, Berland, Siren, additional, Aukrust, Ingvild, additional, Maystadt, Isabelle, additional, Baker, Laura, additional, Benoit, Valerie, additional, Caro-Llopis, Alfonso, additional, Cooper, Nicola S., additional, Debray, François-Guillaume, additional, Faivre, Laurence, additional, Gardeitchik, Thatjana, additional, Haukanes, Bjørn I., additional, Houge, Gunnar, additional, Kivuva, Emma, additional, Martinez, Francisco, additional, Mehta, Sarju G., additional, Nassogne, Marie-Cécile, additional, Powell-Hamilton, Nina, additional, Pfundt, Rolph, additional, Rosello, Monica, additional, Prescott, Trine, additional, Vasudevan, Pradeep, additional, van Loon, Barbara, additional, Verellen-Dumoulin, Christine, additional, Verloes, Alain, additional, Lippe, Charlotte von der, additional, Wakeling, Emma, additional, Wilkie, Andrew O. M., additional, Wilson, Louise, additional, Yuen, Amy, additional, Study, DDD, additional, Low, Karen J., additional, and Newbury-Ecob, Ruth A., additional

Published
2017
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40. Enhanced System for Link and Mode Identification for Personal Travel Surveys Based on Global Positioning Systems

Author

Sheung Yuen Amy Tsui and Amer S. Shalaby

Subjects
ComputerSystemsOrganization_MISCELLANEOUS, Mechanical Engineering, Civil and Structural Engineering
Abstract

This project developed an integrated Global Positioning System–geographic information system (GPS-GIS) to automate the processing of GPS-based personal travel survey data. Two versions of the analysis system were developed in this project: a GPS-alone system, which uses only GPS travel data as input, and a GPS-GIS integrated system, which uses both GPS travel data and topologic information on GIS platform as input. The GPS-alone system includes an activity identification algorithm and a fuzzy logic–based mode identification algorithm. The GPS-GIS integrated system includes link identification on a GIS platform as well as an interactive link matching-mode identification subsystem, which further refines the results from previous identifications performed separately. This project demonstrates how GPS travel data analysis can be automated and highlights the benefits brought by an interactive analysis system, providing an innovative analysis method for personal-based GPS multimodal travel surveys.

Published
2006

41. Atypical cases of Angelman syndrome.

Author

Lawson-Yuen, Amy, Lawson-Yuen, Amy, Wu, Bai-Lin, Lip, Va, Sahoo, Trilochan, Kimonis, Virginia, Lawson-Yuen, Amy, Lawson-Yuen, Amy, Wu, Bai-Lin, Lip, Va, Sahoo, Trilochan, and Kimonis, Virginia

Abstract

Angelman syndrome (AS) is a profound disorder notable for mental retardation and severe language deficits that results from lack of function of the maternally inherited copy of the UBE3A gene. Chromosome deletions of 15q11q13, paternal uniparental disomy (UPD), UBE3A gene mutations, and imprinting center defects are all commonly recognized mechanisms that disrupt the function of the maternal copy of the UBE3A gene. We report here two patients with different atypical etiologies of AS. The first patient is a 3-year-old boy with global developmental delay, severe speech deficits, seizures, and very happy disposition. Southern blot analysis for the maternal and paternal chromosome 15 methylation products showed a mosaic methylation pattern, suggesting an imprinting center defect. The second patient is a 4(1/2)-year-old boy with global developmental delay, no expressive language, microcephaly, seizures, and ataxic gait. Array-based comparative genomic hybridization (CGH) demonstrated a loss in copy number for two overlapping clones encompassing the UBE3A gene, indicating a partial deletion within UBE3A. His mother, who was adopted, had an identical pattern, suggesting that her deletion was probably on her paternally imprinted allele. These patients illustrate the expanding spectrum of molecular findings in AS, reinforce the need to maintain suspicion when clinical features suggest AS but initial testing is normal, and show the power of CGH as a tool to uncover partial UBE3A deletions.

Published
2006

42. Recurrent duplications of 17q12 associated with variable phenotypes

Author

Mitchell, Elyse, primary, Douglas, Andrew, additional, Kjaegaard, Susanne, additional, Callewaert, Bert, additional, Vanlander, Arnaud, additional, Janssens, Sandra, additional, Yuen, Amy Lawson, additional, Skinner, Cindy, additional, Failla, Pinella, additional, Alberti, Antonino, additional, Avola, Emanuela, additional, Fichera, Marco, additional, Kibaek, Maria, additional, Digilio, Maria C., additional, Hannibal, Mark C., additional, den Hollander, Nicolette S., additional, Bizzarri, Veronica, additional, Renieri, Alessandra, additional, Mencarelli, Maria Antonietta, additional, Fitzgerald, Tomas, additional, Piazzolla, Serena, additional, van Oudenhove, Elke, additional, Romano, Corrado, additional, Schwartz, Charles, additional, Eichler, Evan E., additional, Slavotinek, Anne, additional, Escobar, Luis, additional, Rajan, Diana, additional, Crolla, John, additional, Carter, Nigel, additional, Hodge, Jennelle C., additional, and Mefford, Heather C., additional

Published
2015
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43. VOICES OF YOUTH: National Youth Parliament 1999

Author

Yuen, Amy

Subjects
Banking, finance and accounting industries, Business, National Youth Parliament -- Analysis
Abstract

Having worked in retail banking, loan operations, small business banking and global information management, I was keen to apply my communication and problem-solving skills as a representative of the young [...]

Published
1999

45. Survival of the Richest: How Political Candidates Form Campaign Funding Coalitions.

Author

Johnson, Bertram and Yuen, Amy

Subjects
*POLITICAL candidates, *POLITICAL campaigns, *CAMPAIGN funds, *POLITICAL participation, *POLITICAL science research
Abstract

How do Congressional candidates form campaign fundraising coalitions? Few existing accounts of campaign finance view fundraising from the candidate's point of view. Candidates work with limited resources and against multiple competitors to reach the necessary fundraising "bar" to be a viable candidate. Candidates exploit their idiosyncratic advantages (ideology, connections, positions of power, etc.) to efficiently raise the most money possible consistent with maximizing their probability of victory. We use a formal specification to examine two dimensions of candidate decision making - policy preferences and donations to the political campaign. Our model explains why different candidates pursue different funding coalitions. We highlight the important features in the fundraising campaign and offer analysis of the likely effects of campaign contribution limits on the profiles of competitive candidates. Finally, we provide an empirical test of our model that shows that candidates' fundraising efforts are consistent with our predictions. [ABSTRACT FROM AUTHOR]

Published
2016

46. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice

Author

Lawson-Yuen, Amy, Liu, Daniel, Han, Liqun, Jiang, Zhichun I., Tsai, Guochuan E., Basu, Alo C., Picker, Jonathan, Feng, Jiamin, and Coyle, Joseph T.

Subjects
Cerebral Cortex, Male, congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, Ubiquitin-Protein Ligases, Article, Mice, Mutant Strains, Disease Models, Animal, Mice, Gene Expression Regulation, Mutagenesis, Site-Directed, Rett Syndrome, Animals, Female, RNA, Messenger
Abstract

Mutations in the transcriptional repressor methyl CpG binding protein 2 (MeCP2) are responsible for most cases of Rett Syndrome (RS), a severe neurodevelopmental disorder characterized by developmental regression, minimal speech, seizures, postnatal microcephaly and hand stereotypies. Absence of the maternal copy of ubiquitin protein ligase 3A (UBE3A) results in Angelman syndrome, also a severe developmental disorder that shares some clinical features with RS. As MeCP2 regulates gene expression, this has led to the hypothesis that MeCP2 may regulate UBE3A expression; however, there are conflicting reports regarding the expression of Ube3a in MeCP2 null mutant mice. We have generated a novel MeCP2 mutant knock-in mouse with the mutation R168X, one of the most common mutations in patients with RS. These mice show features similar to RS, including hypoactivity, forelimb stereotypies, breathing irregularities, weight changes, hind limb atrophy, and scoliosis. The male mice experience early death. Analysis of Ube3a mRNA and protein levels in the Mecp2(R168X) male mice showed no significant difference in expression compared to their wild type littermates.

Published
2007

47. encephalopathy: A new disease of vesicle fission.

Author

von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, and Littlejohn, Rebecca

Published
2017
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48. HUWE1variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Author

Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew, Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen, and Newbury-Ecob, Ruth

Abstract

Whole-gene duplications and missense variants in the HUWE1gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with HUWE1variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G  >  A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, HUWE1missense variants may cause syndromic ID in both males and females.

Published
2018
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