A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. H...

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Autores principales: Alonazi, Noufa A., Hundallah, Khalid J., Al Hashem, Amal M., Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015445/
https://www.ncbi.nlm.nih.gov/pubmed/29664460
http://dx.doi.org/10.17712/nsj.2018.2.20170463
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author Alonazi, Noufa A.
Hundallah, Khalid J.
Al Hashem, Amal M.
Mohamed, Sarar
author_facet Alonazi, Noufa A.
Hundallah, Khalid J.
Al Hashem, Amal M.
Mohamed, Sarar
author_sort Alonazi, Noufa A.
collection PubMed
description Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. Here, we report a novel stop codon variant, c.5944 C>T (p.Gln1982*), revealed by whole-exome sequencing in a 9-year old boy. He presented with recurrent upper respiratory tract infections, failure to thrive, developmental delay, ataxic gait, and bulbar telangiectasia.
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spelling pubmed-80154452021-08-13 A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing Alonazi, Noufa A. Hundallah, Khalid J. Al Hashem, Amal M. Mohamed, Sarar Neurosciences (Riyadh) Case Report Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. Here, we report a novel stop codon variant, c.5944 C>T (p.Gln1982*), revealed by whole-exome sequencing in a 9-year old boy. He presented with recurrent upper respiratory tract infections, failure to thrive, developmental delay, ataxic gait, and bulbar telangiectasia. Riyadh : Armed Forces Hospital 2018-04 /pmc/articles/PMC8015445/ /pubmed/29664460 http://dx.doi.org/10.17712/nsj.2018.2.20170463 Text en Copyright: © Neurosciences https://creativecommons.org/licenses/by-nc-sa/3.0/Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.
spellingShingle Case Report
Alonazi, Noufa A.
Hundallah, Khalid J.
Al Hashem, Amal M.
Mohamed, Sarar
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
title A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
title_full A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
title_fullStr A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
title_full_unstemmed A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
title_short A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
title_sort novel variant in atm gene causes ataxia telangiectasia revealed by whole-exome sequencing
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015445/
https://www.ncbi.nlm.nih.gov/pubmed/29664460
http://dx.doi.org/10.17712/nsj.2018.2.20170463
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