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https://ahro.austin.org.au/austinjspui/handle/1/22709| Title: | Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. | Austin Authors: | 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 | Affiliation: | Department of Pediatrics, University of Washington, Seattle, WA 98195, USA Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, Victoria, Australia Department of Pediatrics, University of Washington, Seattle, WA 98195, USA Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA 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 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 Hospital, Linkou, Taipei and Keelung, Taiwan, ROC Brotman Baty Institute for Precision Medicine, Seattle, WA, USA 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 Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia Neurosciences Unit, Queensland Children's Hospital and School of Medicine, University of Queensland, Brisbane 4101, QLD, Australia The Florey Institute of Neuroscience and Mental Health, Melbourne 3052, Victoria, Australia Departments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, Victoria, Australia Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan, ROC Department of Neurology, Stanford University School of Medicine, Palo Alto, CA, USA Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA Department of Pediatrics, McGill University, Montreal, QC, Canada Department of Paediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, HUDERF, Université Libre de Bruxelles (ULB), Brussels, Belgium Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan, ROC Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC Department of Pediatrics, University of Washington, Seattle, WA 98195, USA Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia |
Issue Date: | 10-Feb-2020 | Date: | 2020-02-10 | Publication information: | Neuron 2020; 106(2): 237-245.e8 | 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/22709 | DOI: | 10.1016/j.neuron.2020.01.027 | ORCID: | 0000-0003-4580-841X | Journal: | Neuron | PubMed URL: | 32097630 | Type: | Journal Article | Subjects: | CEP85L centrosome lissencephaly pachygyria posterior predominant subcortical band heterotopia |
| Appears in Collections: | Journal articles |
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