1. A new ataxia-telangiectasia mutation in an 11-year-old female
- Author
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Mortaz, Esmaeil, Marashian, Sayed Mehran, Ghaffaripour, Hosseinali, Varahram, Mohammad, Mehrian, Payam, Dorudinia, Atosa, Garssen, Johan, Adcock, Ian M, Taylor, Malcolm, Mahdaviani, Seyed Alireza, Mortaz, Esmaeil, Marashian, Sayed Mehran, Ghaffaripour, Hosseinali, Varahram, Mohammad, Mehrian, Payam, Dorudinia, Atosa, Garssen, Johan, Adcock, Ian M, Taylor, Malcolm, and Mahdaviani, Seyed Alireza
- 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.
- Published
- 2017