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Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

Natsuki Nakamura Y. Nishio Hiromi Nyuzuki A. Fukushima Masaki Miura Yu Kobayashi Risako Ishioka Kotaro Tsukada Yasuyoshi Oka K. Tsujikawa H. Morinaga M. Inaba Jun Tohyama Yuka Nakazawa T. Ikeuchi Takeshi Ono S. Saitoh T. Ogi

Aug 2026 · Molecular Genetics & Genomic Medicine · Vol 14 · 0 citations · 10 references

Medicine

TL;DR

The findings expand the phenotypic spectrum of VPS41‐related disease and highlight the value of long‐read allelic resolution in clarifying pathogenic mechanisms in rare genetic disorders.

Abstract

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.

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