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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A; Scott, Tiana M; Berry, Aliska M; Azamian, Mahshid S; Genetti, Casie; Agrawal, Pankaj B; Picker, Jonathan; Wojcik, Monica H; Delgado, Mauricio R; Lynch, Sally A; Scherer, Stephen W; Howe, Jennifer L; Bacino, Carlos A; DiTroia, Stephanie; VanNoy, Grace E; O'Donnell-Luria, Anne; Lalani, Seema R; Graf, William D; Rosenfeld, Jill A; Eichler, Evan E; Earl, Rachel K; Scott, Daryl A.
Afiliación
  • Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Wang T; Texas Children's Hospital, Houston, Texas, USA.
  • Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Scott TM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Berry AM; Seattle Children's Hospital, Seattle, Washington, USA.
  • Azamian MS; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA.
  • Genetti C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Agrawal PB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Picker J; Texas Children's Hospital, Houston, Texas, USA.
  • Wojcik MH; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Delgado MR; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Lynch SA; Department of Pediatrics, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Scherer SW; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Howe JL; Department of Pediatrics, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Bacino CA; Department of Pediatrics, Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • DiTroia S; Broad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • VanNoy GE; Department of Neurology, University of Texas Southwestern, Dallas, Texas, USA.
  • O'Donnell-Luria A; Scottish Rite for Children, Dallas, Texas, USA.
  • Lalani SR; Clinical Genetics, Dublin 1, Ireland.
  • Graf WD; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Rosenfeld JA; Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
  • Eichler EE; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Earl RK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Scott DA; Texas Children's Hospital, Houston, Texas, USA.
Hum Mutat ; 43(4): 461-470, 2022 04.
Article en En | MEDLINE | ID: mdl-35094443
PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss-of-function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder (ASD). We describe 16 individuals from 12 families who carry deletions involving PAX5 and surrounding genes, de novo frameshift variants that are likely to trigger nonsense-mediated mRNA decay, a rare stop-gain variant, or missense variants that affect conserved amino acid residues. Four of these individuals were published previously but without detailed clinical descriptions. All these individuals have been diagnosed with one or more neurodevelopmental phenotypes including delayed developmental milestones (DD), intellectual disability (ID), and/or ASD. Seizures were documented in four individuals. No recurrent patterns of brain magnetic resonance imaging (MRI) findings, structural birth defects, or dysmorphic features were observed. Our findings suggest that PAX5 haploinsufficiency causes a neurodevelopmental disorder whose cardinal features include DD, variable ID, and/or ASD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos