De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

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作者： Dongxue,Mao ^[1] ; Chloe M,Reuter ^[2] ; Maura R Z,Ruzhnikov ^[3] ; Anita E,Beck ^[4] ; Emily G,Farrow ^[5] ; Lisa T,Emrick ^[6] ; Jill A,Rosenfeld ^[7] ; Katherine M,Mackenzie ^[8] ; Laurie,Robak ^[9] ; Matthew T,Wheeler ^[10] ; Lindsay C,Burrage ^[11] ; Mahim,Jain ^[12] ; Pengfei,Liu ^[7] ; Daniel,Calame ^[13] ; Sébastien,Küry ^[14] ; Martin,Sillesen ^[15] ; Klaus,Schmitz-Abe ^[16] ; Davide,Tonduti ^[17] ; Luigina,Spaccini ^[18] ; Maria,Iascone ^[19] ; Casie A,Genetti ^[16] ; Mary K,Koenig ^[20] ; Madeline,Graf ^[21] ; Alyssa,Tran ^[7] ; Mercedes,Alejandro ^[7] ; Undiagnosed Diseases Network ^[11] ; Brendan H,Lee ^[22] ; Isabelle,Thiffault ^[16] ; Pankaj B,Agrawal ^[23] ; Jonathan A,Bernstein ^[24] ; Hugo J,Bellen ^[25] ; Hsiao-Tuan,Chao

作者单位： Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. ^[1] Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford School of Medicine, Stanford, CA 94305, USA. ^[2] Department of Neurology and Neurological Sciences, Stanford, CA 94305, USA; Division of Medical Genetics, Department of Pediatrics, Stanford Medicine, Stanford, CA 94305, USA. ^[3] Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. ^[4] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO 64108, USA. ^[5] Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. ^[6] Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA. ^[7] Department of Neurology and Neurological Sciences, Stanford, CA 94305, USA. ^[8] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. ^[9] Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[10] Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. ^[11] Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA. ^[12] Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. ^[13] Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes 44007, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes 44007, France. ^[14] Department of Surgical Gastroenterology, Copenhagen University Hospital, Copenhagen 2100, Denmark. ^[15] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. ^[16] Unit of Child Neurology, V. Buzzi Children's Hospital, Milan 20154, Italy. ^[17] Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, Milan 20154, Italy. ^[18] Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo 24127, Italy. ^[19] Department of Pediatrics, McGovern Medical School, The University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA. ^[20] Stanford Cancer Genetics, Stanford Healthcare, Stanford, CA 94305, USA. ^[21] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA. ^[22] Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[23] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu. ^[24] Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address: hc140077@bcm.edu. ^[25]

关键词 EIF2S1 EIF2α abnormal myelination cognitive impairment febrile illnesses hypomyelination hypotonia integrated stress response movement disorders regression