ArticlePloS one2013
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 58 citations in OpenAlex.
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.Biomedicines · 2025Review
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- Identification of key biomarkers in Angelman syndrome by a multi-cohort analysis.Frontiers in medicine · 2022Article
- The Importance of Alpha-Actinin Proteins in Platelet Formation and Function, and Their Causative Role in Congenital Macrothrombocytopenia.International journal of molecular sciences · 2021Review
- Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of αFrontiers in pediatrics · 2021Article
- Inherited thrombocytopenias: history, advances and perspectives.Haematologica · 2020Review
- Novel ACTN1 variants in cases of thrombocytopenia.Human mutation · 2019Article
- [The progresses in research and treatment of inherited platelet disorders].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.Nature communications · 2018Article
- Megakaryocyte ontogeny: Clinical and molecular significance.Experimental hematology · 2018Review
- Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.Cytoskeleton (Hoboken, N.J.) · 2018Article
- Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Haematologica · 2018Article
- Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.The Journal of clinical investigation · 2017Article
- Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.American journal of human genetics · 2016Article
- Article
- Genome-wide analysis of alternative transcripts in human breast cancer.Breast cancer research and treatment · 2015Article
- The secret life of a megakaryocyte: emerging roles in bone marrow homeostasis control.Cellular and molecular life sciences : CMLS · 2015Review
- ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.Blood · 2015Article
- Inherited thrombocytopenias: the beat goes on.Blood · 2015Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of the underlying pathogenic mechanisms. Here we report a six-generation French pedigree with an autosomal dominant mode of inheritance and the identification of its genetic basis. Of the 55 subjects available for analysis, 26 were diagnosed with isolated macrothrombocytopenia. Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22) with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. The missense mutation occurred within actin-binding domain of alpha-actinin 1, a functionally critical domain that crosslinks actin filaments into bundles. The evaluation of cultured mutation-harboring megakaryocytes by electron microscopy and the immunofluorescence examination of transfected COS-7 cells suggested that the mutation causes disorganization of the cellular cytoplasm. Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes.
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