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Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Neurogenetics - 3 Mar 2026

Lai King Lam, Smith Thomas B, Maroofian Reza, Zaki Maha S, Ramadesikan Swetha, Reynolds Tamara, Koboldt Daniel C, Hunter Jesse M, Vidaurre Jorge, Atanasova Mihaela, Marsden Brian D, Yue Wyatt W, Houlden Henry, Taylor Robert W, Newman William G, O'Keefe Raymond T

Abstract excerpt

Biallelic hypomorphic variants in PRORP cause the rare autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a clinical spectrum of sensorineural hearing loss and ovarian insufficiency (Perrault syndrome) to leukodystrophy with developmental delay and epilepsy. Here, we report two new affected individuals with biallelic PRORP variants with clinical...

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Identifiers

PMID: 41772230
DOI: 10.1007/s10048-026-00892-5
PMCID: PMC12953478

Genes

PRORP

Variants

Provenance

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

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Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.PMID 41772230Read ↗

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