RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, a tendency to malignancies and variable immunodeficiency. Here we described a 5-year-old girl with atypical A-T symptoms. And 2 different ATM variants c.5939_5948del in exon 40 and c.2639-384A > G in intron 17 were detected by whole exome sequencing (WES) combined with RNA...