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Article

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.

Pediatric neurology - 1 Jun 2022

Zhang Yi, Yu Yafen, Zhao Xiangyue, Xu Yufei, Chen Lina, Li Niu, Yao Ruen, Wang Jian, Yu Tingting

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia type 6 (PCH6) is an early-onset encephalopathy with/without mitochondrial respiratory complex defects caused by recessive mutations in mitochondrial arginyl-tRNA synthetase (RARS2). Highly heterogeneous clinical phenotypes and numerous missense variations of uncertain significance make diagnosis difficult. Pathogenesis of PCH6 remains unclear. METHODS: Facial characteristics...

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PMID: 35468344
DOI: 10.1016/j.pediatrneurol.2022.04.002

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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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