Your browser doesn't support javascript.
loading
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady, Lauren; Schrier Vergano, Samantha A; Hoffman, Trevor L; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz-Rogers, Laura; Chung, Wendy K; Sacharow, Stephanie; Immken, Ladonna L; Holder, Susan; Blackwell, Rebecca R; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, Anne-Marie; Rodan, Lance; de Vries, Bert B A; Kamsteeg, Erik Jan; Santos Simarro, Fernando; Palomares-Bralo, Maria; Brown, Natasha; Pais, Lynn; Ferrer, Alejandro; Klee, Eric W; Babovic-Vuksanovic, Dusica; Rhodes, Lindsay; Person, Richard; Begtrup, Amber; Keller-Ramey, Jennifer; Santiago-Sim, Teresa; Schnur, Rhonda E; Sweetser, David A; Gold, Nina B.
Afiliação
  • O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
  • Schrier Vergano SA; MGH Institute of Health Professions, Charlestown, Massachusetts, USA.
  • Hoffman TL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.
  • Sarco D; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.
  • Cherny S; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA.
  • Bryant E; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA.
  • Schultz-Rogers L; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.
  • Chung WK; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.
  • Sacharow S; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Immken LL; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA.
  • Holder S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Blackwell RR; Harvard Medical School, Boston, Massachusetts, USA.
  • Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Yusupov R; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Lecoquierre F; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Guerrot AM; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Rodan L; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • de Vries BBA; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.
  • Kamsteeg EJ; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.
  • Santos Simarro F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Palomares-Bralo M; Harvard Medical School, Boston, Massachusetts, USA.
  • Brown N; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Pais L; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Ferrer A; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
  • Klee EW; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
  • Babovic-Vuksanovic D; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.
  • Rhodes L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Person R; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Begtrup A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Keller-Ramey J; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Santiago-Sim T; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Sweetser DA; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Gold NB; GeneDx, Inc., Gaithersburg, Maryland, USA.
Am J Med Genet A ; 188(9): 2750-2759, 2022 09.
Article em En | MEDLINE | ID: mdl-35543142
ABSTRACT
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.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article