A new ataxia-telangiectasia mutation in an 11-year-old female

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Title: A new ataxia-telangiectasia mutation in an 11-year-old female
Author(s): Mortaz, E
Marashian, SM
Ghaffaripour, H
Varahram, M
Mehrian, P
Dorudinia, A
Garssen, J
Adcock, IM
Taylor, M
Mahdaviani, SA
Item Type: Journal Article
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.
Publication Date: 9-May-2017
Date of Acceptance: 31-Mar-2017
URI: http://hdl.handle.net/10044/1/50503
DOI: https://dx.doi.org/10.1007/s00251-017-0983-9
ISSN: 0093-7711
Publisher: Springer Verlag
Start Page: 415
End Page: 419
Journal / Book Title: Immunogenetics
Volume: 69
Issue: 7
Copyright Statement: © The Author(s) 2017. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Keywords: Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Immunology
A-t
Mutation
Female
BREAST-CANCER
ATM GENE
IMMUNODEFICIENCY
CHILDHOOD
LEUKEMIA
SEQUENCE
KINASE
RISKS
DNA
A-t
Female
Mutation
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Immunology
A-t
Mutation
Female
BREAST-CANCER
ATM GENE
IMMUNODEFICIENCY
CHILDHOOD
LEUKEMIA
SEQUENCE
KINASE
RISKS
DNA
1107 Immunology
Immunology
Publication Status: Published
Appears in Collections:National Heart and Lung Institute
Airway Disease
Faculty of Medicine



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