Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.

ABSTRACT: Ataxia‑telangiectasia (A‑T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM serine/threonine kinase (ATM) gene. Typically, it presents in early childhood with progressive cerebellar dysfunction, accompanied by immunodeficiency and oculocutaneous telangiectasia. In the present study, the clinical and genetic findings of a Chinese family affected with A‑T in two live siblings, the proband (II‑2) and his elder brother (II‑1), as well as a fetus (II‑3) were reported. General health, clinical neurological, electrophysiological (motor and sensory nerve conduction) and magnetic resonance imaging evaluations revealed that patients II‑1 and II‑2 had similar symptoms of ataxia, dysarthria, conjunctival hyperemia and elevated serum α‑fetoprotein, whereas patient 

SUBMITTER: Cao J 

PROVIDER: S-EPMC6471340 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature