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

Authors

• Noufa A. Alonazi
• Khalid J. Hundallah
• Amal M. Al Hashem
• Sarar Mohamed

Abstract

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.

Article Type

Case Report

First Page

162

Last Page

164

Recommended Citation

Alonazi, Noufa A.; Hundallah, Khalid J.; Hashem, Amal M. Al; and Mohamed, Sarar (2018) "A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing," Neurosciences: Vol. 23: Iss. 2, Article 15.
DOI: https://doi.org/10.17712/nsj.2018.2.20170463