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Article

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.

HGG advances - 9 Jul 2026

Mantecon Matthieu, Chhuon Cerina, Roger Kevin, Guerrera Ida Chiara, Bole Christine, Nitschke Patrick, Dufeu-Bérat Claire-Marie, Ashcroft Margaret, Taylor Robert W, Boddaert Nathalie, Rötig Agnès

Abstract excerpt

Mitochondrial disorders show remarkable clinical and genetic heterogeneity and result from variants in either mitochondrion- or nucleus-encoded genes. CHCHD4 is a component of the mitochondrial import and assembly pathway that imports small cysteine-containing substrates. We report a pediatric patient with biallelic CHCHD4 variants who presented with severe neurological regression and early death. Western blot...

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Identifiers

PMID: 41981912
DOI: 10.1016/j.xhgg.2026.100615
PMCID: PMC13147372

Genes

CHCHD4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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