A new ataxia-telangiectasia mutation in an 11-year-old female
Publication date
2017-07
Authors
Mortaz, Esmaeil
Marashian, Sayed Mehran
Ghaffaripour, Hosseinali
Varahram, Mohammad
Mehrian, Payam
Dorudinia, Atosa
Garssen, Johan
Adcock, Ian M
Taylor, Malcolm
Mahdaviani, Seyed Alireza
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Document Type
Article
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Abstract
Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This subject presented with typical features, with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs, along with a high EBV titer. The subject died as a result of rapid B-cell lymphoma progression before chemotherapy could be initiated. This case highlights the need for the rapid diagnosis of A-T mutations and the detection of associated life-threatening outcomes such as cancers.
Keywords
Ataxia Telangiectasia, Ataxia Telangiectasia Mutated Proteins, Child, Female, Humans, Mutation, Prognosis, Case Reports, Journal Article, SDG 3 - Good Health and Well-being
Citation
Mortaz, E, Marashian, S M, Ghaffaripour, H, Varahram, M, Mehrian, P, Dorudinia, A, Garssen, J, Adcock, I M, Taylor, M & Mahdaviani, S A 2017, 'A new ataxia-telangiectasia mutation in an 11-year-old female', Immunogenetics, vol. 69, no. 7, pp. 415-419. https://doi.org/10.1007/s00251-017-0983-9