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.