ArticleMolecular genetics & genomic medicine2014
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.Frontiers in neurology · 2024Article
- Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.BMC medical genomics · 2021Article
- Double Heterozygous Mutations in theBreast care (Basel, Switzerland) · 2021Article
- Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.Neurogenetics · 2021Article
- Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia.Journal of clinical immunology · 2021Article
- Primary Immunodeficiencies: Diseases of Children and Adults - A Review.Advances in experimental medicine and biology · 2021Review
- The most frequent PolishArchives of medical science : AMS · 2021Article
- Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.Breast cancer research : BCR · 2018Article
- Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.Medical oncology (Northwood, London, England) · 2018Article
- Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.BMC cancer · 2018Article
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated mutational spectrum in Polish AT patients. As a result of molecular analysis, the status of recurrent mutation was confirmed and ten new ATM variants were detected. Application of MLPA analysis allowed the detection of large genomic deletion. Previously, this type of mutation had never been seen in our population. Finally, in silico analysis was carried out for newly detected ATM alterations. In addition, functional analysis was performed to evaluate the effects of intronic variants: c.3402+30_3402+32delATC.
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