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3 results on '"Angela Barnicoat"'

1. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Author

Rosaline Caumes, Andrea Berger, John Stone, Roberta Battini, Charles Marques Lourenço, Gerardine Quaghebeur, Nicholas A. Fletcher, Elliott H. Sherr, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Marco Henneke, Kanaga R. Sinnathuray, Pierre Landrieu, James O'Sullivan, Calvin Soh, Himanshu Goel, Patrick Ferreira, Katrin Õunap, Cheryl Hemingway, Laurence C. Goosey, Graham D. Pavitt, Hilde Van Esch, Prab Prabhakar, Yoann Rose, Jill E. Urquhart, Yanick J. Crow, Gabriela M. Baerlocher, Simon G. Williams, Mathieu P Rodero, Ram L. Kumar, Emma M. Jenkinson, Gillian I. Rice, Sarju G. Mehta, Adeline Vanderver, Timothy J. Malpas, Christopher J. Kershaw, Imke Metz, Edward Blair, Paul R. Kasher, Imelda Hughes, Patrick Revy, David Cassiman, Duccio Maria Cordelli, Angela Barnicoat, Andrea Whitney, Janice E. Brunstrom-Hernandez, Axel Panzer, Kristin W. Barañano, Liesbeth De Waele, Geraldine Aubert, Raphael Schiffmann, H. Stewart, Monika Haubitz, Rosalind J. Jefferson, Alan Fryer, Anthony Oojageer, Carolina Uggenti, John H. Livingston, Sam Griffiths-Jones, Christine E. G. van Mol, Johannes A. Buckard, Raymond T. O'Keefe, Lieven Lagae, Emma Wakeling, Sakkubai Naidu, Alex J. Fay, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Manchester Centre for Genomic Medicine (MCGM), Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-St Mary's Hospital Manchester, Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Department of Medical Genetics, and HMNC Brain Health

Subjects
0303 health sciences, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biology, medicine.disease, Article, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Cerebral microangiopathy, Genetics, medicine, 610 Medicine & health, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract

Although ribosomes are ubiquitously expressed and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein encoding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis.

Published
2017

2. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Author

Mina Ryten, Sérgio B. Sousa, Richard H Scott, Estelle Chanudet, Glenn Anderson, Lionel Van Maldergem, Dagan Jenkins, Philip L. Beales, Krystyna H. Chrzanowska, James Docker, Jorge M. Saraiva, Philip Stanier, Gudrun E. Moore, Miho Ishida, Angela Barnicoat, Joaquim Sá, Martina Simandlova, Duangrurdee Wattanasirichaigoon, Guergana Tasseva, Jean E. Vance, and Alistair Calder

Subjects
Male, Fosfatidilserinas, Embryo, Nonmammalian, Adolescent, Nitrogenous Group Transferases, Molecular Sequence Data, Dwarfism, Phosphatidylserines, Biology, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Cells, Cultured, Zebrafish, 030304 developmental biology, Transferases de Grupos Nitrogenados, Phosphatidylethanolamine, 0303 health sciences, Mutation, Deficiência Intelectual, Syndrome, Phosphatidylserine, Fibroblasts, Hyperostosis, medicine.disease, 3. Good health, chemistry, Craniotubular Hyperostosis, Female, Anomalias Congénitas Múltiplas, 030217 neurology & neurosurgery, Cutis laxa
Abstract

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.

Published
2013

3. Erratum: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Author

Esther Meyer, Manju A. Kurian, Sanjay Bhate, Jean-Pierre Lin, Agnel Praveen Joseph, Angela Barnicoat, F. Lucy Raymond, Jonathan R. Chubb, Niklas Darin, Shibalik Misra, Lucinda Carr, Joanne Ng, Deborah Morrogh, Julia Rankin, Henry Houlden, Erik-Jan Kamsteeg, Martin Smith, Patricia Limousin, Shane McKee, David Arkadir, Sarah Wiethoff, Hilla Ben-Pazi, Patrick Rump, Wui K. Chong, John M.E. Nichols, Michèl A.A.P. Willemsen, William A. Gahl, Gregory Peters, Detelina Grozeva, S Heales, Camilo Toro, André Reis, Shekeeb S Mohammed, Simon Pope, Deciphering Developmental Disorders Study, Adeline Ngoh, Joost Nicolai, Zvi Israel, Russell C. Dale, Nicholas W. Wood, Serena Barral, Niccolo E. Mencacci, Dagmar Wieczorek, Hardev Pall, Gidon Winter, Vasiliki Nakou, Peter D. Turnpenny, Prab Prabhakar, Kailash P. Bhatia, Alan Pittman, Margje Sinnema, Christopher Wragg, Keren J. Carss, Maya Topf, Amber Boys, Apostolos Papandreou, Hagai Bergman, Reeval Segel, Jane A. Hurst, Susan M. White, Nicholas Gutowski, A. Hills, Margaret Kaminska, Daniel E. Lumsden, Belén Pérez-Dueñas, Nicola Foulds, Kathryn J. Peall, Paul Gissen, Miriam S. Reuter, Magnus Nilsson, and Brian T. Wilson

Subjects
0301 basic medicine, Dystonia, Biology, medicine.disease, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Histone methyltransferase, Genetics, medicine, Gene, 030217 neurology & neurosurgery, Early onset
Abstract

Nat. Genet. 49, 223–237 (2017); published online 19 December 2016; corrected after print 20 April 2017 Following publication of this article, the authors were asked to remove a clinical image and some video footage of one of the affected individuals. Although consent was obtained, in keeping with their ethical consent framework, the authors allow for withdrawal of consent and are carrying out the wishes of the research subjects under their consent process.

Published
2017

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