PT - JOURNAL ARTICLE AU - Alonazi, Noufa A. AU - Hundallah, Khalid J. AU - Al Hashem, Amal M. AU - Mohamed, Sarar TI - A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing AID - 10.17712/nsj.2018.2.20170463 DP - 2018 Apr 01 TA - Neurosciences Journal PG - 162--164 VI - 23 IP - 2 4099 - http://nsj.org.sa/content/23/2/162.short 4100 - http://nsj.org.sa/content/23/2/162.full SO - Neurosciences (Riyadh)2018 Apr 01; 23 AB - 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.