RT Journal Article
SR Electronic
T1 A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 162
OP 164
DO 10.17712/nsj.2018.2.20170463
VO 23
IS 2
A1 Alonazi, Noufa A.
A1 Hundallah, Khalid J.
A1 Al Hashem, Amal M.
A1 Mohamed, Sarar
YR 2018
UL http://nsj.org.sa/content/23/2/162.abstract
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.