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Article

Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Apr 2026

Şenol Ersak Ayşe, Çağıran Tuğçe, Koçyiğit Ayşen, Çıkı Kısmet, Yıldız Yılmaz, Aypar Ebru, Ketenci İşlek Serap, Şimşek Kiper Pelin Özlem, Haliloğlu Göknur, Dursun Ali

Abstract excerpt

OBJECTIVES: NSUN3 encodes a mitochondrial RNA methyltransferase responsible for cytosine methylation at the tRNA wobble base, which plays a role in the regulation of mitochondrial translation. Variants in NSUN3 lead to impaired oxidative phosphorylation resulting in multisystem involvement. Reported cases to date have described developmental delay, hypotonia, optic atrophy and neurological involvement. Cardiac...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41725275
DOI: 10.1515/jpem-2025-0578

Genes

NSUN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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