HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Autor: Niggl E; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: a.bouman@erasmusmc.nl., Briere LC; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA., Hoogenboezem RM; Department of Hematology, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Wallaard I; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; NGS Competence Center Tübingen, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Wilke M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Harris-Mostert EDRO; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Elgersma M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Bain J; Department of Neurology Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK; Department of Oncology & Metabolism, University of Sheffield, S5 7AU Sheffield, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Blesson AE; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Ellingford JM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany., Jain M; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Krantz I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Luu SM; Waisman Center, University of Wisconsin Hospitals and Clinics, Madison, WI 53704, USA; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., McPheron M; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., Muss CL; Nemours / AI DuPont Hospital for Children, Wilmington, DE 19803, USA., Raible SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Starling S; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA., Sweetser DA; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA., Thiffault I; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA; Undiagnosed Rare Disease Clinic (URDC), Indiana University, Indianapolis, IN 46202, USA., Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Woods E; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK., Zhou D; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA., Elgersma Y; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl., van Esbroeck ACM; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1414-1435.

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.

Autor: Johansson, Josefin¹ (AUTHOR), Lidéus, Sarah¹ (AUTHOR), Höijer, Ida¹ (AUTHOR), Ameur, Adam¹ (AUTHOR), Gudmundsson, Sanna^2,3 (AUTHOR), Annerén, Göran¹ (AUTHOR), Bondeson, Marie-Louise¹ (AUTHOR), Wilbe, Maria¹ (AUTHOR) maria.wilbe@igp.uu.se

Publikováno v: Scientific Reports. 11/20/2023, Vol. 13 Issue 1, p1-9. 9p.

A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.

Autor: Kharrat, Marwa, Issa, Abir Ben, Tlili, Abdelaziz, Jallouli, Olfa, Alila-Fersi, Olfa, Maalej, Marwa, Chouchen, Jihen, Ghouylia, Yosra, Kamoun, Fatma, Triki, Chahnez, Fakhfakh, Faiza

Publikováno v: Journal of Molecular Neuroscience; Oct2023, Vol. 73 Issue 9/10, p853-864, 12p