Article
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.
Molecular genetics & genomic medicine - 1 Sept 2026
Nakamura Natsuki, Nishio Yosuke, Nyuzuki Hiromi, Fukushima Ai, Miura Masaki, Kobayashi Yu, Ishioka Risako, Tsukada Kotaro, Oka Yasuyoshi, Tsujikawa Koyo, Morinaga Hironobu, Inaba Mie, Tohyama Jun, Nakazawa Yuka, Ikeuchi Takeshi, Ono Takeshi, Saitoh Shinji, Ogi Tomoo
Abstract excerpt
BACKGROUND: Biallelic variants in VPS41, encoding a subunit of the HOPS complex, cause autosomal recessive spinocerebellar ataxia 29 (SCAR29), a rare neurodevelopmental disorder with an incompletely defined phenotypic and molecular spectrum. METHODS: We investigated a 24-year-old man with cerebellar ataxia, hypotonia, and intellectual disability. Exome sequencing identified four candidate VPS41 variants. Because...
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