ArticleHuman molecular genetics2020
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 29 citations in OpenAlex.
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- Identification and validation of a tear fluid-derived protein biomarker signature in patients with amyotrophic lateral sclerosis.Acta neuropathologica communications · 2025Article
- Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models.Communications biology · 2025Article
- Ontology-guided clustering enables proteomic analysis of rare pediatric disorders.EMBO molecular medicine · 2025Article
- LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics.iScience · 2025Article
- Mechanisms and therapeutic potential of disulphidptosis in cancer.Cell proliferation · 2025Review
- Runs of homozygosity and selection signature analyses reveal putative genomic regions for artificial selection in layer breeding.BMC genomics · 2024Article
- Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.Journal of human genetics · 2024Review
- Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers.Genome medicine · 2023Article
- It Takes Two to Tango! Protein-Protein Interactions behind cAMP-Mediated CFTR Regulation.International journal of molecular sciences · 2023Review
- Myofilament-associated proteins with intrinsic disorder (MAPIDs) and their resolution by computational modeling.Quarterly reviews of biophysics · 2023Review
- Actin polymerization and depolymerization in developing vertebrates.Frontiers in physiology · 2023Review
- A 9.8 Mb deletion at 7q31.2q31.31 downstream ofClinical case reports · 2022Article
- Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.Human molecular genetics · 2022Article
- Identification of the key genes in chronic obstructive pulmonary disease by weighted gene co-expression network analysis.Annals of translational medicine · 2022Article
- Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.Cell reports · 2022Article
- Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders inInternational journal of molecular sciences · 2022Review
- Genetic dissection of novel myopathy models reveals a role of CapZα and Leiomodin 3 during myofibril elongation.PLoS genetics · 2022Article
- A recurrent,HGG advances · 2022Article
- Actin capping protein regulates postsynaptic spine development through CPI-motif interactions.Frontiers in molecular neuroscience · 2022Article
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13 authors at 5 institutions in 3 countries.
Funding
Abstract
The actin cytoskeleton is regulated by many proteins including capping proteins that stabilize actin filaments (F-actin) by inhibiting actin polymerization and depolymerization. Here, we report two pediatric probands who carry damaging heterozygous de novo mutations in CAPZA2 (HGNC: 1490) and exhibit neurological symptoms with shared phenotypes including global motor development delay, speech delay, intellectual disability, hypotonia and a history of seizures. CAPZA2 encodes a subunit of an F-actin-capping protein complex (CapZ). CapZ is an obligate heterodimer consisting of α and β heterodimer conserved from yeast to human. Vertebrate genomes contain three α subunits encoded by three different genes and CAPZA2 encodes the α2 subunit. The single orthologue of CAPZA genes in Drosophila is cpa. Loss of cpa leads to lethality in early development and expression of the human reference; CAPZA2 rescues this lethality. However, the two CAPZA2 variants identified in the probands rescue this lethality at lower efficiency than the reference. Moreover, expression of the CAPZA2 variants affects bristle morphogenesis, a process that requires extensive actin polymerization and bundling during development. Taken together, our findings suggest that variants in CAPZA2 lead to a non-syndromic neurodevelopmental disorder in children.
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