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Article

Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.

Journal of human genetics - 1 Jul 2024

Kuroda Yukiko, Naruto Takuya, Tsuyusaki Yu, Kato Ayumi, Aida Noriko, Kurosawa Kenji

Abstract excerpt

Biallelic TOE1 variants can cause pontocerebellar hypoplasia type 7 (PCH7), a condition characterized by pontocerebellar hypoplasia with genital abnormality. TOE1 is a 3'-exonuclese for 3'-end maturation in small nuclear RNA. TOE1 pathogenic variants have been reported at the DEDD catalytic domain and zinc finger motif. Here, we describe a PCH7 patient with novel compound heterozygous TOE1 variants and a detailed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38605133
DOI: 10.1038/s10038-024-01244-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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