Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS

• Published in: Journal of human genetics Vol. 65; no. 5; pp. 475 - 480
• Main Authors: Nakamura, Haruko, Doi, Hiroshi, Mitsuhashi, Satomi, Miyatake, Satoko, Katoh, Kazutaka, Frith, Martin C., Asano, Tetsuya, Kudo, Yosuke, Ikeda, Takuya, Kubota, Shun, Kunii, Misako, Kitazawa, Yu, Tada, Mikiko, Okamoto, Mitsuo, Joki, Hideto, Takeuchi, Hideyuki, Matsumoto, Naomichi, Tanaka, Fumiaki
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.05.2020
• Subjects: Age; Aged, 80 and over; Asian Continental Ancestry Group; Ataxia; Atrophy; Autonomic nervous system; Bilateral Vestibulopathy - diagnosis; Bilateral Vestibulopathy - genetics; Blood pressure; Cerebellar ataxia; Cerebellar Ataxia - diagnosis; Cerebellar Ataxia - genetics; Cerebellum; Computed tomography; Dementia; Deoxyribonucleic acid; DNA; DNA Repeat Expansion; Dopamine receptors; Eye movements; Female; Genetic screening; Genetics; Genomes; Hallucinations; Haplotypes; Humans; Iodine; Japan; Nedd4 Ubiquitin Protein Ligases - genetics; Neuropathy; Replication Protein C - genetics; Sequence Analysis, DNA; Sympathetic nerves; Tomography; Vestibular system; Japan

Recently, a recessively inherited intronic repeat expansion in replication factor C1 (RFC1) was identified in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Here, we describe a Japanese case of genetically confirmed CANVAS with autonomic failure and auditory...