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Autistic Disorder: HELP
Articles by Moira Blyth
Based on 3 articles published since 2010
(Why 3 articles?)
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Between 2010 and 2020, Moira Blyth wrote the following 3 articles about Autistic Disorder.
 
+ Citations + Abstracts
1 Article Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications. 2020

Myers, Lynnea / Blyth, Moira / Moradkhani, Kamran / Hranilović, Dubravka / Polesie, Sam / Isaksson, Johan / Nordgren, Ann / Bucan, Maja / Vincent, Marie / Bölte, Sven / Anderlid, Britt-Marie / Tammimies, Kristiina. ·Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden. · Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK. · CHU Nantes, Service de Génétique Médicale, Nantes, France. · Department of Biology, Faculty of Science, University of Zagreb, Zagreb, Croatia. · Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. · Department of Dermatology and Venereology, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden. · Department of Neuroscience, Child and Adolescent Psychiatry and Psychiatry Unit, Uppsala University, Uppsala, Sweden. · Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. · Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. · Department of Genetics and Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. · Centre Hospitalier, University of Nantes, Nantes, France. · Curtin Autism Research Group, School of Occupational Therapy, Social Work and Speech Pathology, Curtin University, Perth, Western Australia, Australia. ·Mol Genet Genomic Med · Pubmed #31730283.

ABSTRACT: BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. METHODS: We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. RESULTS: The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. CONCLUSION: This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.

2 Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 2019

Cogné, Benjamin / Ehresmann, Sophie / Beauregard-Lacroix, Eliane / Rousseau, Justine / Besnard, Thomas / Garcia, Thomas / Petrovski, Slavé / Avni, Shiri / McWalter, Kirsty / Blackburn, Patrick R / Sanders, Stephan J / Uguen, Kévin / Harris, Jacqueline / Cohen, Julie S / Blyth, Moira / Lehman, Anna / Berg, Jonathan / Li, Mindy H / Kini, Usha / Joss, Shelagh / von der Lippe, Charlotte / Gordon, Christopher T / Humberson, Jennifer B / Robak, Laurie / Scott, Daryl A / Sutton, Vernon R / Skraban, Cara M / Johnston, Jennifer J / Poduri, Annapurna / Nordenskjöld, Magnus / Shashi, Vandana / Gerkes, Erica H / Bongers, Ernie M H F / Gilissen, Christian / Zarate, Yuri A / Kvarnung, Malin / Lally, Kevin P / Kulch, Peggy A / Daniels, Brina / Hernandez-Garcia, Andres / Stong, Nicholas / McGaughran, Julie / Retterer, Kyle / Tveten, Kristian / Sullivan, Jennifer / Geisheker, Madeleine R / Stray-Pedersen, Asbjorg / Tarpinian, Jennifer M / Klee, Eric W / Sapp, Julie C / Zyskind, Jacob / Holla, Øystein L / Bedoukian, Emma / Filippini, Francesca / Guimier, Anne / Picard, Arnaud / Busk, Øyvind L / Punetha, Jaya / Pfundt, Rolph / Lindstrand, Anna / Nordgren, Ann / Kalb, Fayth / Desai, Megha / Ebanks, Ashley Harmon / Jhangiani, Shalini N / Dewan, Tammie / Coban Akdemir, Zeynep H / Telegrafi, Aida / Zackai, Elaine H / Begtrup, Amber / Song, Xiaofei / Toutain, Annick / Wentzensen, Ingrid M / Odent, Sylvie / Bonneau, Dominique / Latypova, Xénia / Deb, Wallid / Anonymous16561124 / Redon, Sylvia / Bilan, Frédéric / Legendre, Marine / Troyer, Caitlin / Whitlock, Kerri / Caluseriu, Oana / Murphree, Marine I / Pichurin, Pavel N / Agre, Katherine / Gavrilova, Ralitza / Rinne, Tuula / Park, Meredith / Shain, Catherine / Heinzen, Erin L / Xiao, Rui / Amiel, Jeanne / Lyonnet, Stanislas / Isidor, Bertrand / Biesecker, Leslie G / Lowenstein, Dan / Posey, Jennifer E / Denommé-Pichon, Anne-Sophie / Anonymous16571124 / Férec, Claude / Yang, Xiang-Jiao / Rosenfeld, Jill A / Gilbert-Dussardier, Brigitte / Audebert-Bellanger, Séverine / Redon, Richard / Stessman, Holly A F / Nellaker, Christoffer / Yang, Yaping / Lupski, James R / Goldstein, David B / Eichler, Evan E / Bolduc, Francois / Bézieau, Stéphane / Küry, Sébastien / Campeau, Philippe M. ·Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. · Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. · Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge CB2 0AA, UK. · Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford OX1 3PJ, UK. · GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA. · Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA. · Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. · UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France. · Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. · Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. · Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Chapeltown Road, Leeds LS7 4SA, UK. · Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada. · Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK. · Rush University Medical Center, Department of Pediatrics, Division of Genetics, Chicago, IL 60612, USA. · Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Trust, Oxford OX3 7LE, UK. · West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK. · Department of Medical Genetics, St. Olav's Hospital, Trondheim University Hospital, 7006 Trondheim, Norway. · Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France. · Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. · Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. · Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA. · Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. · Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden. · Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. · Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, the Netherlands. · Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. · Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA. · Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA. · Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. · Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. · Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland 4029, Australia; School of Medicine, The University of Queensland, Brisbane, Queensland 4029, Australia. · Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway. · Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. · Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolecent Medicine, Oslo University Hospital, Rikshospitalet, Pb 4950 Nydalen, N-0424 Oslo, Norway. · Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. · Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA. · Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France. · Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Chirurgie Maxillofaciale et Plastique, Centre de référence des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France. · Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA. · Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. · Service de Génétique, Centre Hospitalier Universitaire de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; Inserm U1253, Ibrain, Université de Tours, 37032 Tours, France. · Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement (CLAD) Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France. · Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France. · Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France. · Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada. · Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. · Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. · Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. · Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. · Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA. · Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK. · Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. · Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France. · INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. · Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA. · Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7FZ, UK. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. · Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. · Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada. · Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr. · Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address: p.campeau@umontreal.ca. ·Am J Hum Genet · Pubmed #30827496.

ABSTRACT: Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.

3 Article Anophthalmia in fronto-facial-nasal dysplasia. 2011

Blyth, Moira / Baralle, Diana. ·Wessex Clinical Genetics Service, Academic Unit of Genetic Medicine, University of Southampton, UK. ·Clin Dysmorphol · Pubmed #21317770.

ABSTRACT: -- No abstract --