ArticleNeuromolecular medicine2013
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
Article in Neuromolecular medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.Frontiers in genetics · 2024Article
- Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.Frontiers in neurology · 2024Article
- Germline variants associated with breast cancer in Khakass women of North Asia.Molecular biology reports · 2023Article
- Ataxia-telangiectasia in China: a case report of a novelFrontiers in neurology · 2023Article
- Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.Scientific reports · 2022Article
- 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
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics · 2020Article
- Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.Molecular medicine reports · 2019Article
- Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.Molecular and clinical oncology · 2018Article
- Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.Breast cancer research : BCR · 2018Article
- Article
- Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Molecular genetics & genomic medicine · 2014Article
- Radiological imaging in ataxia telangiectasia: a review.Cerebellum (London, England) · 2014Review
Corrections and comments
- Erratum issued
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency. This disease is caused by mutations of the ataxia telangiectasia mutated (Atm) gene. More than 500 Atm mutations that are responsible for A-T have been identified so far. However, there have been very few A-T cases reported in China, and only two Chinese A-T patients have undergone Atm gene analysis. In order to systemically investigate A-T in China and map their Atm mutation spectrum, we recruited eight Chinese A-T patients from six unrelated families nationwide. Using direct sequencing of genomic DNA and the multiplex ligation-dependent probe amplification, we identified twelve pathogenic Atm mutations, including one missense, four nonsense, five frameshift, one splicing, and one large genomic deletion. All the Atm mutations we identified were novel, and no homozygous mutation and founder-effect mutation were found. These results suggest that Atm mutations in Chinese populations are diverse and distinct largely from those in other ethnic areas.
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