ArticleEuropean journal of human genetics : EJHG2012
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.Frontiers in immunology · 2021Pooled it
- Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report.Molecular genetics and metabolism reports · 2026Article
- ATM immunohistochemistry as an effective screening method for POLE variants among endometrial carcinomas lacking mismatch repair deficiency and p53 abnormalities.The journal of pathology. Clinical research · 2026Article
- Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis.The Journal of molecular diagnostics : JMD · 2025Article
- Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.Journal of mother and child · 2025Article
- Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.Frontiers in neurology · 2024Article
- Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.Frontiers in genetics · 2024Article
- ATM c.7570G>C is a high-risk allele for breast cancer.International journal of cancer · 2023Article
- Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.Frontiers in oncology · 2023Article
- RPRM negatively regulates ATM levels through its nuclear translocation on irradiation mediated by CDK4/6 and IPO11.iScience · 2022Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.BMC medical genomics · 2021Article
- Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.Journal of the National Cancer Institute · 2021Article
- Genes Regulating Spermatogenesis and Sperm Function Associated With Rare Disorders.Frontiers in cell and developmental biology · 2021Review
- Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).Molecular genetics & genomic medicine · 2020Article
- Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.Case reports in genetics · 2020Article
- De novo and biallelic DEAF1 variants cause a phenotypic spectrum.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.Molecular medicine reports · 2019Article
- Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.Molecular medicine reports · 2019Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immune defects and predisposition to malignancies. A-T is caused by biallelic inactivation of the ATM gene, in most cases by frameshift or nonsense mutations. More rarely, ATM missense mutations with unknown consequences on ATM function are found, making definitive diagnosis more challenging. In this study, a series of 15 missense mutations, including 11 not previously reported, were identified in 16 patients with clinical diagnosis of A-T belonging to 14 families and 1 patient with atypical clinical features. ATM function was evaluated in patient lymphoblastoid cell lines by measuring H2AX and KAP1 phosphorylation in response to ionizing radiation, confirming the A-T diagnosis for 16 cases. In accordance with previous studies, we showed that missense mutations associated with A-T often lead to ATM protein underexpression (15 out of 16 cases). In addition, we demonstrated that most missense mutations lead to an abnormal cytoplasmic localization of ATM, correlated with its decreased expression. This new finding highlights ATM mislocalization as a new mechanism of ATM dysfunction, which may lead to therapeutic strategies for missense mutation associated A-T.
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