ArticleHuman genetics2015
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Anomalous brain gyrification patterns in major psychiatric disorders: a systematic review and transdiagnostic integration.Translational psychiatry · 2021Pooled it
- Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The Recycling Endosomal (NaActa physiologica (Oxford, England) · 2026Article
- A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.Acta neuropathologica · 2026Article
- PP2Acα regulates cerebellar development via phosphorylation-dependent neuronal programs.iScience · 2026Article
- Investigation of the mechanisms underlying the development and evolution of the mammalian cerebrum using gyrencephalic ferrets.Frontiers in cell and developmental biology · 2026Review
- Article
- CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.Clinical genetics · 2025Article
- Genetic effects of sequence-conserved enhancer-like elements on human complex traits.Genome biology · 2024Article
- Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.BMC pediatrics · 2022Article
- Investigation of the Mechanisms Underlying the Development and Evolution of the Cerebral Cortex Using Gyrencephalic Ferrets.Frontiers in cell and developmental biology · 2022Review
- Tissue-Wide Effects Override Cell-Intrinsic Gene Function in Radial Neuron Migration.Oxford open neuroscience · 2022Article
- Protocols for Characterization of Cdk5 Kinase Activity.Current protocols · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Moonlighting of mitotic regulators in cilium disassembly.Cellular and molecular life sciences : CMLS · 2021Review
- Cyclin-Dependent Kinases (CDK) and Their Role in Diseases Development-Review.International journal of molecular sciences · 2021Review
- Genetic Mechanisms Underlying Cortical Evolution in Mammals.Frontiers in cell and developmental biology · 2021Review
- Cyclin-dependent kinases and rare developmental disorders.Orphanet journal of rare diseases · 2020Review
- Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors.Molecular autism · 2020Article
- Article
Corrections and comments
- Erratum issuedErratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.2015 · Katib, Nassser [corrected to Katib, Nasser]; Zur, Shay [corrected to Tzur, Shay]
Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lissencephaly comprises a heterogeneous group of developmental brain disorders of varying severity, involving abnormal cortical gyration. We studied a highly consanguineous Israeli Moslem family with a lethal form of autosomal recessive lissencephaly with cerebellar hypoplasia (LCH). Using microarray-based homozygosity mapping in the reported family, combined with whole exome sequencing in one affected infant, we identified a homozygous splice site mutation g.IVS8+1G>A in cyclin-dependent kinase 5 (CDK5), causing complete skipping of exon 8, and leading to a frame shift and premature stop codon (p.V162SfsX19). The mutation co-segregated with the disease phenotype in all 29 study participants (4 patients and 25 healthy relatives), and was not identified in 200 ethnically matched control chromosomes. The p.V162SfsX19 mutation causes lack of endogenous CDK5 expression in affected dermal fibroblasts and brain tissue at the mRNA and protein levels, consistent with nonsense-mediated mRNA decay. Functional analysis of the p.V162SfsX19 mutation, using a yeast complementation assay, showed loss-of-function of the mutant CDK5 gene product, thereby implicating its role in the pathogenesis of autosomal recessive LCH in the studied family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.