RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
| Autor: | Yuta Ichinose, Yoshihisa Takiyama, Andrea Cortese, Mai Tsuchiya, Keisuke Shimozono, Toshihisa Ohtsuka, Yeon-Jeong Kim, Kishin Koh, Haitian Nan, Takanori Hata, Lihua Gao |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Vestibular areflexia Ataxia Cerebellar ataxia business.industry Sleep apnea Disease 030105 genetics & heredity medicine.disease RFC1 03 medical and health sciences 030104 developmental biology Genetics medicine medicine.symptom business Trinucleotide repeat expansion Genetics (clinical) Cohort study |
| Zdroj: | Journal of Human Genetics. 65:1143-1147 |
| ISSN: | 1435-232X 1434-5161 |
| Popis: | Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In Europeans, the expansion accounted for 22% of sporadic patients with late-onset ataxia. We genotyped 37 Japanese patients comprising 25 familial (autosomal recessive or undecided transmission) and 12 sporadic ones with late-onset ataxia. We found intronic repeat expansions in RFC1 in three (12%) of the familial patients and one (8.5%) of the sporadic ones. Although our cohort study was small, the disease frequency in Japanese patients with CANVAS might be lower than that in European ones. In addition, we found biallelic ACAGG repeat expansion in one patient, indicating ACAGG repeat expansion might cause CANVAS. Clinically, we found one patient with sleep apnea syndrome, which has not been reported previously. Thus, this study might expand the clinical and genetic spectrum of CANVAS. |
| Databáze: | OpenAIRE |
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