ArticleAnnals of neurology2013
Mutations in γ adducin are associated with inherited cerebral palsy.
Article in Annals of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 57 citations in OpenAlex.
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- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Nature medicine · 2024Article
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
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- Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.Molecular genetics and metabolism · 2022Review
- The adducin saga: pleiotropic genomic targets for precision medicine in human hypertension-vascular, renal, and cognitive diseases.Physiological genomics · 2022Review
- Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- The role of the membrane-associated periodic skeleton in axons.Cellular and molecular life sciences : CMLS · 2021Review
- A Mutation inJournal of the American Society of Nephrology : JASN · 2020Article
- Deep Learning/Artificial Intelligence and Blood-Based DNA Epigenomic Prediction of Cerebral Palsy.International journal of molecular sciences · 2019Article
- Variants of the OLIG2 Gene are Associated with Cerebral Palsy in Chinese Han Infants with Hypoxic-Ischemic Encephalopathy.Neuromolecular medicine · 2019Article
- Targeted resequencing identifies genes with recurrent variation in cerebral palsy.NPJ genomic medicine · 2019Article
- Identification of pathways and genes associated with cerebral palsy.Genes & genomics · 2018Article
- A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.PLoS genetics · 2018Article
- Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.Translational psychiatry · 2018Article
- Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.NPJ genomic medicine · 2018Article
- Application of Weighted Gene Co-Expression Network Analysis to Explore the Key Genes in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2018Article
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Authors and funding
17 authors at 5 institutions in 3 countries.
Funding
Abstract
objectiveCerebral palsy is estimated to affect nearly 1 in 500 children, and although prenatal and perinatal contributors have been well characterized, at least 20% of cases are believed to be inherited. Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease.
methodsWe studied a multiplex consanguineous Jordanian family by homozygosity mapping and exome sequencing, then used patient-derived fibroblasts to examine functional consequences of the mutation we identified in vitro. We subsequently studied the effects of adducin loss of function in Drosophila.
resultsWe identified a homozygous c.1100G>A (p.G367D) mutation in ADD3, encoding gamma adducin in all affected members of the index family. Follow-up experiments in patient fibroblasts found that the p.G367D mutation, which occurs within the putative oligomerization critical region, impairs the ability of gamma adducin to associate with the alpha subunit. This mutation impairs the normal actin-capping function of adducin, leading to both abnormal proliferation and migration in cultured patient fibroblasts. Loss of function studies of the Drosophila adducin ortholog hts confirmed a critical role for adducin in locomotion.
interpretationAlthough likely a rare cause of cerebral palsy, our findings indicate a critical role for adducins in regulating the activity of the actin cytoskeleton, suggesting that impaired adducin function may lead to neuromotor impairment and further implicating abnormalities of the dynamic cytoskeleton as a pathogenic mechanism contributing to cerebral palsy.
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