ArticleNeuron2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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Article in Neuron, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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12 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Dexmedetomidine Mitigates Sevoflurane-Induced Neurodevelopmental Effects in Paediatric Anaesthesia: A Meta-Analysis and Preclinical Study.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2026Pooled it
- CEP170 as a novel molecular link between centrosomal function and cerebral cortical development.Journal of biomedical science · 2026Article
- Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.Molecular psychiatry · 2025Article
- Novel Copy Number Deletion InvolvingClinical case reports · 2025Article
- Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.Acta neuropathologica · 2024Article
- Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.Brain communications · 2024Article
- Analysis of Neuronal Morphology by Two-Photon Microscopy.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Identification of actionable targets for breast cancer intervention using a diversity outbred mouse model.iScience · 2023Article
- mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants.Genomics, proteomics & bioinformatics · 2023Article
- Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.BMC pediatrics · 2022Article
- Brain Organization and Human Diseases.Cells · 2022Review
- Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in theGenes · 2021Article
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Authors and funding
32 authors at 16 institutions in 6 countries.
Meng-Han TsaiDepartment of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan 833, ROC; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan 33302, ROC.
Alison M MuirDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Won-Jing WangInstitute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC.
Yi-Ning KangInstitute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
Kun-Chuan YangInstitute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
Nian-Hsin ChaoInstitute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
Mei-Feng WuInstitute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC.
Ying-Chao ChangDepartment of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan, ROC.
Brenda E PorterDepartment of Neurology, Stanford University School of Medicine, Palo Alto, CA, USA.
Laura A JansenDepartment of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Guillaume SebireDepartment of Pediatrics, McGill University, Montreal, QC, Canada.
Nicolas DeconinckDepartment of Paediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, HUDERF, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Wen-Lang FanGenomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan, ROC.
Shih-Chi SuWhole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC.
Wen-Hung ChungSchool 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.
Edith P Almanza FuerteDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Michele G MehaffeyDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
University of Washington Center for Mendelian Genomics
Ching-Ching NgGenetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Chung-Kin ChanGenetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Kheng-Seang LimDivision of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia.
Richard J LeventerMurdoch 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.
Paul J LockhartMurdoch 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.
Kate RineyNeurosciences Unit, Queensland Children's Hospital and School of Medicine, University of Queensland, Brisbane 4101, QLD, Australia.
John A DamianoMurdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia.
Michael S HildebrandMurdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, VIC, Australia; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia.
Ghayda M MirzaaDepartment 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.
William B DobynsDepartment 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.
Samuel F BerkovicEpilepsy Research Centre, University of Melbourne, Austin Health, Melbourne 3084, VIC, Australia.
Ingrid E SchefferMurdoch 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, Melbourne 3084, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, Melbourne 3052, VIC, Australia.
Jin-Wu TsaiInstitute 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. Electronic address: tsaijw@ym.edu.tw.
Heather C MeffordDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: hmefford@uw.edu.
National Yang Ming Chiao Tung University · TWUniversity of Washington · USChang Gung Memorial Hospital · TWUniversity of Malaya · MYAustin Health · AUBrotman Baty Institute · USUniversity of Melbourne · AUChang Gung University · TWKaohsiung Chang Gung Memorial Hospital · TWMcGill University · CAMurdoch Children's Research Institute · AURoyal Children's Hospital · AUStanford University · USUniversité Libre de Bruxelles · BEUniversity of Queensland · AUWashington University in St. Louis · US
Funding
LABORATORY OF DEVELOPMENTAL BIOLOGYR24HD000836 · NICHD · UNIVERSITY OF WASHINGTON · PI Ian Amos Glass · 1995 to 2026
$16.9MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MMechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MA Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MDiversity Action Plan: UW GenOM ProjectR25HG007153 · NHGRI · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2020
$2.3MGenes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930kNHGRI NIH HHS R25 HG007153NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NICHD NIH HHS P50 HD103524NICHD NIH HHS R24 HD000836NICHD NIH HHS U54 HD083091NINDS NIH HHS K08 NS092898NINDS NIH HHS R01 NS069605
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.
Indexed as
AdolescentAdultAge of OnsetAnimalsCentrosomeChildChild, PreschoolChromosome AberrationsClassical Lissencephalies and Subcortical Band HeterotopiasCytoskeletal ProteinsFemaleGene Knockdown TechniquesGenetic VariationHeterozygoteHumansInfantCEP85L protein, humanCytoskeletal ProteinsOncogene Proteins, FusioncentrosomeCEP85Llissencephalypachygyriaposterior predominantsubcortical band heterotopia
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