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Results: 20
Bilateral giant retinal tears in Osteogenesis Imperfecta.
Humans osteogenesis imperfecta Retinal Detachment Retinal Perforations Collagen Type I Collagen Type II Collagen Type V Proteoglycans Membrane Glycoproteins Protein Processing Post-Translational Genes Recessive Child Male Genetic Testing Prolyl Hydroxylases
Published by: BMC medical genetics
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
MJ Keogh, H Steele, K Douroudis, A Pyle, J Duff, R Hussain, T Smertenko, H Griffin, M Santibanez-Koref, R Horvath, PF Chinnery
Mar 07, 2019
Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired...
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Arundhati Dev Borman, Laura R Pearce, Donna S Mackay, Kerstin Nagel-Wolfrum, Alice E Davidson, Robert Henderson, Sumedha Garg, Naushin H Waseem, Andrew R Webster, Vincent Plagnol, Uwe Wolfrum, I Sadaf Farooqi, Anthony T Moore
Mar 17, 2015
SSBP1-Disease Update
Neringa Jurkute, Fabiana D'Esposito, Anthony G Robson, Robert DS Pitceathly, Francesca Cordeiro, F Lucy Raymond, Anthony T Moore, Michel Michaelides, Patrick Yu-Wai-Man, Andrew R Webster, Gavin Arno, Genomics England Research Consortium
Jan 28, 2022
Adolescent Amino Acid Sequence Child Preschool DNA Mitochondrial DNA-Binding Proteins Electroretinography Female Genes Recessive Genotyping Techniques Humans Male Middle Aged Mitochondrial Diseases Mitochondrial Proteins Molecular Conformation Molecular Sequence Data Mutation Missense Optic Atrophy Pedigree Penetrance Protein Stability Protein Structure Quaternary Retinal Dystrophies whole genome sequencing
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
Tarana Singh Dang, Joseph DP Willet, Helen R Griffin, Neil V Morgan, Graeme O'Boyle, Peter D Arkwright, Stephen M Hughes, Mario Abinun, Louise J Tee, Dawn Barge, Karin R Engelhardt, Michael Jackson, Andrew J Cant, Eamonn R Maher, Mauro Santibanez Koref, Louise N Reynard, Simi Ali, Sophie Hambleton
Mar 03, 2016
CD4 lymphopenia Combined immunodeficiency MST1 STK4 Chemotaxis lymphocyte adhesion Cell Adhesion Chemotaxis Leukocyte Child Preschool Female Genes Recessive Humans Immunologic Deficiency Syndromes Immunophenotyping Intercellular Adhesion Molecule-1 Intracellular Signaling Peptides and Proteins Lymphocytes Pedigree Phenotype Protein Serine-Threonine Kinases Siblings
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet-Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio
Nov 13, 2020
OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that...
A recessive genetic screen for host factors required for retroviral infection in a library of insertionally mutated Blm-deficient embryonic stem cells.
BACKGROUND: Host factors required for retroviral infection are potential targets for the modulation of diseases caused by retroviruses. During the retroviral life cycle, numerous cellular factors interact with the virus and play...
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas W Fitzgerald, Nicola Foulds, Richard Francis, George Gabriel, Sebastian S Gerety, Judith Goodship, Emma Hobson, Wendy D Jones, Shelagh Joss, Daniel King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O'Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, Ganesh J Swaminathan, Peter Turnpenny, James Whitworth, Caroline F Wright, Helen V Firth, Jeffrey C Barrett, Cecilia W Lo, David R FitzPatrick, Matthew E Hurles, DDD Study
Feb 18, 2021
Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery...
Cell Cycle Proteins Developmental Disabilities Exome Family Health Female Genes Recessive Genetic Association Studies Genetic Predisposition to Disease genetic variation Genotype Humans Male Matrix Metalloproteinases Secreted Pedigree Phenotype Protein-Arginine N-Methyltransferases Sequence Analysis DNA Ubiquitin-Protein Ligases United Kingdom
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M Croft, Carsten Posovszky, Astor Rodrigues, Richard K Russell, Farah Barakat, Marcus KH Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C Matte, Kimberly C Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A Baeumler, Tudor A Fulga, Eli M Carrami, Ahmed Ahmed, Rachel Wilson, Jeffrey C Barrett, Abdul Elkadri, Anne M Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B Snapper, Neil Shah, Aleixo M Muise, David C Wilson, Holm H Uhlig, Carl A Anderson
Jan 31, 2020
Adult Age of Onset Case-Control Studies Child Child Preschool Cohort Studies Female Genes Recessive Genetic Predisposition to Disease genetic variation Humans Infant Infant Newborn Inflammatory Bowel Diseases Loss of Function Mutation Male Mosaicism Multifactorial Inheritance Mutation NADPH Oxidase 2 Pedigree Primary Immunodeficiency Diseases Risk Factors Exome Sequencing
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Vivienne CM Neeve, Angela Pyle, Veronika Boczonadi, Aurora Gomez-Duran, Helen Griffin, Mauro Santibanez-Koref, Ulrike Gaiser, Peter Bauer, Andreas Tzschach, Patrick F Chinnery, Rita Horvath
Sep 03, 2020
Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain...
The contribution of X-linked coding variation to severe developmental disorders.
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y Eberhardt, Ana Lisa Taylor Tavares, Matthew DC Neville, Mari EK Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles
Feb 26, 2021
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of...
Zebrafish Models of Autosomal Recessive Ataxias.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez
Jun 28, 2021
Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them. Autosomal recessive ataxias, which are characterized by neuronal and multisystemic...
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Mario Van Poucke, Kimberley Stee, Sofie FM Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman, Luc Van Ham
Aug 08, 2019
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound...
Retrospective natural history of thymidine kinase 2 deficiency.
Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John LP Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
Apr 17, 2019
BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of...
Clinical genetics metabolic disorders muscle disease Neuromuscular disease Adolescent Adult Age of Onset Aged Child Child Preschool Female Genes Recessive Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant Newborn Male Middle Aged Mitochondrial Proteins Muscle Skeletal Muscular Diseases Mutation Phenotype Retrospective Studies Survival Analysis Thymidine Kinase Young Adult
Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.
David J Swan, Dominik Aschenbrenner, Christopher A Lamb, Krishnendu Chakraborty, Jonathan Clark, Sumeet Pandey, Karin R Engelhardt, Rui Chen, Athena Cavounidis, Yuchun Ding, Natalio Krasnogor, Christopher D Carey, Meghan Acres, Stephanie Needham, Andrew J Cant, Peter D Arkwright, Anita Chandra, Klaus Okkenhaug, Holm H Uhlig, Sophie Hambleton
May 16, 2019
Phosphoinositide 3-kinase δ (PI3Kδ), a lipid kinase consisting of a catalytic (p110δ, encoded by PIK3CD) and a regulatory subunit (p85, encoded by PIK3R1), generates the second messenger phosphatidylinositol...
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.
BACKGROUND: Midface toddler excoriation syndrome (MiTES) is a condition recently reported in three unrelated children. Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and...
Natural history of Charcot-Marie-Tooth disease type 2A
Menelaos Pipis, Shawna ME Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Oct 15, 2020
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth...
Charcot-Marie-Tooth Examination Score v2.0 Charcot-Marie-Tooth disease type 2A genotype-phenotype correlations mitofusin-2 standardized response mean Adolescent Adult Age of Onset Charcot-Marie-Tooth disease Child Child Preschool Cohort Studies Disease Progression Female GTP Phosphohydrolases Genes Dominant Genes Recessive Genetic Association Studies Genetic Markers Humans Infant Longitudinal Studies Male Mitochondrial Proteins Neurologic Examination Orthotic Devices Prognosis Prospective Studies Wheelchairs Young Adult
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango Allen, Lisa Bradley, Angela F Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury-Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L Baple, Sian Ellard
Jan 03, 2020
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Katharina Vill, Wolfgang Müller-Felber, Dieter Gläser, Marius Kuhn, Veronika Teusch, Herbert Schreiber, Joachim Weis, Jörg Klepper, Anja Schirmacher, Astrid Blaschek, Manuela Wiessner, Tim M Strom, Bianca Dräger, Kristina Hofmeister-Kiltz, Moritz Tacke, Lucia Gerstl, Peter Young, Rita Horvath, Jan Senderek
Aug 01, 2019
Clonal expansion of mtDNA deletions
Selena Trifunov, Angela Pyle, Maria Lucia Valentino, Rocco Liguori, Patrick Yu-Wai-Man, Florence Burté, Jennifer Duff, Stephanie Kleinle, Isabel Diebold, Michela Rugolo, Rita Horvath, Valerio Carelli
Oct 03, 2018
Deletions in mitochondrial DNA (mtDNA) are an important cause of human disease and their accumulation has been implicated in the ageing process. As mtDNA is a high copy number genome, the coexistence of deleted and wild-type...
Adolescent Adult Aged Biopsy DNA Mitochondrial Electron Transport Complex IV Female GTP Phosphohydrolases Gene Dosage Genes Recessive Humans Male Middle Aged Muscle Cells Muscle Fibers Skeletal Mutation Oxidative Phosphorylation Polymerase Chain Reaction Reproducibility of Results Sequence Deletion Succinate Dehydrogenase Young Adult