Whole-genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS syndrome

OBJECTIVES: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) results from biallelic intronic pentanucleotide repeats in METHODS: We performed whole-genome sequencing (WGS) on peripheral blood DNA samples from the proband and his unaffected mother. We performed DNA long-read sequencing and synthesized complementary DNA from RNA using peripheral blood from the proband. RESULTS: WGS confirmed the maternally inherited DISCUSSION: We report an adult with CANVAS due to compound heterozygous pathogeni