1.
Neurosciences (Riyadh)
; 23(2): 162-164, 2018 Apr.
Article
in English
| MEDLINE
| ID: mdl-29664460
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.
Subject(s)
Ataxia Telangiectasia Mutated Proteins/genetics , Ataxia Telangiectasia/genetics , Codon, Nonsense , Adult , Ataxia Telangiectasia/pathology , Humans , Male , Exome Sequencing
2.
Neurosciences (Riyadh)
; 22(2): 146-155, 2017 04.
Article
in English
| MEDLINE
| ID: mdl-28416791