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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Tsai, Meng-Han; Muir, Alison M; Wang, Won-Jing; Kang, Yi-Ning; Yang, Kun-Chuan; Chao, Nian-Hsin; Wu, Mei-Feng; Chang, Ying-Chao; Porter, Brenda E; Jansen, Laura A; Sebire, Guillaume; Deconinck, Nicolas; Fan, Wen-Lang; Su, Shih-Chi; Chung, Wen-Hung; Almanza Fuerte, Edith P; Mehaffey, Michele G; Ng, Ching-Ching; Chan, Chung-Kin; Lim, Kheng-Seang; Leventer, Richard J; Lockhart, Paul J; Riney, Kate; Damiano, John A; Hildebrand, Michael S; Mirzaa, Ghayda M; Dobyns, William B; Berkovic, Samuel F; Scheffer, Ingrid E; Tsai, Jin-Wu; Mefford, Heather C.
Afiliação
  • Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan 833, ROC; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan 33302, ROC.
  • Muir AM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Wang WJ; Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC.
  • Kang YN; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
  • Yang KC; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
  • Chao NH; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
  • Wu MF; Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC.
  • Chang YC; Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan, ROC.
  • Porter BE; Department of Neurology, Stanford University School of Medicine, Palo Alto, CA, USA.
  • Jansen LA; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
  • Sebire G; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Deconinck N; Department of Paediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, HUDERF, Université Libre de Bruxelles (ULB), Brussels, Belgium.
  • Fan WL; Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan, ROC.
  • Su SC; Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC.
  • Chung WH; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan 33302, ROC; Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC; Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial
  • Almanza Fuerte EP; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Ng CC; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
  • Chan CK; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
  • Lim KS; Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia.
  • Leventer RJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, VIC, Australia.
  • Lockhart PJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, VIC, Australia.
  • Riney K; Neurosciences Unit, Queensland Children's Hospital and School of Medicine, University of Queensland, Brisbane 4101, QLD, Australia.
  • Damiano JA; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia.
  • Hildebrand MS; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia.
  • Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Berkovic SF; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia.
  • Scheffer IE; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Me
  • Tsai JW; Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Brain Research Center, National Yang-Ming University, Taipei 112, Taiwan, ROC; Department of Biological Science & Technology, National Chiao Tung University, Hsin-Chu 30010, Taiwan, ROC. Electroni
  • Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: hmefford@uw.edu.
Neuron ; 106(2): 237-245.e8, 2020 04 22.
Article em En | MEDLINE | ID: mdl-32097630
ABSTRACT
Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Fusão Oncogênica / Proteínas do Citoesqueleto / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Fusão Oncogênica / Proteínas do Citoesqueleto / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article