Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Autor: O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; MGH Institute of Health Professions, Charlestown, Massachusetts, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA., Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA., Sarco D; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA., Cherny S; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA., Bryant E; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA., Schultz-Rogers L; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Immken LL; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Holder S; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Blackwell RR; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Yusupov R; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France., Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Santos Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Brown N; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Pais L; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Ferrer A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Klee EW; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Rhodes L; GeneDx, Inc., Gaithersburg, Maryland, USA., Person R; GeneDx, Inc., Gaithersburg, Maryland, USA., Begtrup A; GeneDx, Inc., Gaithersburg, Maryland, USA., Keller-Ramey J; GeneDx, Inc., Gaithersburg, Maryland, USA., Santiago-Sim T; GeneDx, Inc., Gaithersburg, Maryland, USA., Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA., Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Sep; Vol. 188 (9), pp. 2750-2759. Date of Electronic Publication: 2022 May 11.
DOI: 10.1002/ajmg.a.62772
Abstrakt: The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this gene in individuals with neurodevelopmental disorders. We report 14 individuals with various forms of neurodevelopmental conditions, found to have heterozygous, predominantly de novo, missense, and loss-of-function variants in PRPF8. These individuals have clinical features that may represent a new neurodevelopmental syndrome.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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