Regular ArticleAtaxia-Telangiectasia: Phenotype/Genotype Studies of ATM Protein Expression, Mutations, and Radiosensitivity
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Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients
2021, Mutation Research - Genetic Toxicology and Environmental MutagenesisCitation Excerpt :In general, most ATM mutations lead to coding of stop codons (seen here in AT8 and AT9), larger deletions (AT6 and AT7) or changed splice points (AT8 and AT9), and fewer than 10% of changes are missense mutations (AT4 and AT5) [14,39,40,42]. As a consequence, no level of ATM protein is detectable in 85% of ATM mutations, even when there is a sufficient amount of mRNA [43]. ATM protein plays a key role in DSB repair, and most symptoms of AT patients are based on defects in DNA damage repair [17,44].
DNA damage and repair in individuals with ataxia-telangiectasia and their parents
2018, Mutation Research - Genetic Toxicology and Environmental MutagenesisCitation Excerpt :The ATM protein levels in heterozygotes, although lower, are sufficient to ensure normal neurological development and cell functions. The higher cancer risk may be attributed to an ATM threshold below which certain cells become more susceptible to carcinogenic environmental agents [2]. The study of different aspects of AT may provides significant help in the characterization of the disease, allowing changes in the conduct and monitoring of patients, aiming to prevent the emergence of secondary diseases to this pathology, such as the development of cancer [17,18].
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis
2017, Journal of the Neurological SciencesA nervous predisposition to unrepaired DNA double strand breaks
2013, DNA RepairImmunodeficiency Disorders
2013, Emery and Rimoin's Principles and Practice of Medical Genetics