A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Autor: Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao 趙孝端 HT

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1239. Date of Electronic Publication: 2024 May 08.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Autor: Paul MS; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA., Michener SL; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA., Pan H; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chan H; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA; Augustana College, Rock Island, IL, USA; Summer Undergraduate Research Training (SMART) Program, Baylor College of Medicine, Houston, TX, USA., Pfliger JM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Graduate Program in Electrical and Computer Engineering, Rice University, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lerma VC; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Psychology, University of Houston, Houston, TX, USA., Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Longley MA; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Renal Genetics Clinic, Baylor College of Medicine, Houston, TX, USA., Bekheirnia N; Renal Genetics Clinic, Baylor College of Medicine, Houston, TX, USA., Massingham L; Rhode Island Hospital and Hasbro Children's Hospital, Providence, RI, USA., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Engels H; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Cremer K; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Mangold E; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Peters S; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Trautmann J; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Mester JL; GeneDx, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., McDonnell PP; Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cohen SR; Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lusk L; Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cohen ASA; Children's Mercy Kansas City, Genomic Medicine Center, The University of Missouri-Kansas City (UMKC), School of Medicine, Kansas City, MO, USA., Le Pichon JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Pastinen T; Children's Mercy Kansas City, Genomic Medicine Center, The University of Missouri-Kansas City (UMKC), School of Medicine, Kansas City, MO, USA; Children's Mercy Research Institute, Kansas City, MO, USA., Zhou D; Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Children's Mercy Hospital, Kansas City, MO, USA., Racine C; University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies Du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France., Faivre L; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bourgogne University Hospital, Dijon, France., Moutton S; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bourgogne University Hospital, Dijon, France., Denommé-Pichon AS; University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies Du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France., Koh HY; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Bolton J; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH, Aachen University, Aachen, Germany., Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH, Aachen University, Aachen, Germany., Maier A; Medical Treatment Center for Adults with Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Schaefer GB; University of Arkansas for Medical Sciences; Little Rock, AR, USA., Ramakumaran V; LNR Genomics Medicine, University Hospitals of Leicester, Leicester, UK., Vasudevan P; LNR Genomics Medicine, University Hospitals of Leicester, Leicester, UK., Prasad C; London Health Sciences Centre, and Division of Medical Genetics, Department of Pediatrics, Western University, London, ON, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Russ-Hall S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC, Melbourne, Australia., Carvill GL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Mefford H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Chao HT; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA. Electronic address: chao-lab@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jan 04; Vol. 111 (1), pp. 96-118.

An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

Autor: Deisseroth CA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Lerma VC; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA., Magyar CL; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Graduate Program in Genetics and Genomics, Baylor College of Medicine, Houston, TX, USA., Pfliger JM; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Development, Disease Models, and Therapeutics Training Program, Baylor College of Medicine, Houston, TX, USA., Nayak A; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Biomedical Engineering, Case Western Reserve University, Cleveland, OH, USA., Bliss ND; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Biomedical Engineering, Texas A&M University, College Station, TX, USA., LeMaire AW; Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Balak C; Biomedical Sciences Graduate Program, University of California at San Diego, San Diego, CA, USA., Zanni G; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Wangler MF; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chao HT; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA.

Publikováno v: Annals of neurology [Ann Neurol] 2022 Jul; Vol. 92 (1), pp. 138-153. Date of Electronic Publication: 2022 Apr 16.