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Nakamura, K.* ; Kishita, Y.* ; Imai-Okazaki, A.* ; Omata, T.* ; Nodera, M.* ; Yatsuka, Y.* ; Sugiura, A.* ; Matsumoto, N.* ; Prokisch, H. ; Matsumoto, H.* ; Ohtake, A.* ; Murayama, K.* ; Okazaki, Y.*

Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction.

J. Hum. Genet., DOI: 10.1038/s10038-025-01356-8 (2025)
Postprint Research data DOI PMC
Open Access Green
Mitochondrial diseases are characterized by impaired energy production due to mitochondrial dysfunction. Despite advances in sequencing technologies, many cases remain genetically undiagnosed. We report two cases of mitochondrial disease harboring identical de novo variant in the non-coding RNA gene RNU4-2, previously associated with neurodevelopmental disorders. Re-analysis of whole genome sequencing data from 357 patients ascertained as possibly having mitochondrial disease (see Methods: Supplementary Data S1) identified two cases with a pathogenic RNU4-2 variant (GRCh38: chr.12:120291839: T > TA; NR_003137.2: n.64_65insT). Both patients exhibited decreased oxygen consumption rates and clinical features including developmental delay, microcephaly, short stature. This study provides the first evidence linking RNU4-2 variant to mitochondrial disease, expanding the phenotypic spectrum associated with this gene. Our findings highlight the importance of re-analyzing genomic data and considering non-coding RNA gene variants in mitochondrial disease diagnostics, potentially improving the diagnosis of previously unsolved cases.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Dna
Language english
Publication Year 2025
HGF-reported in Year 2025
ISSN (print) / ISBN 1434-5161
e-ISSN 1435-232X
Journal Journal of human genetics
Publisher Springer
Publishing Place Campus, 4 Crinan St, London, N1 9xw, England
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503292-001
Grants MEXT | Japan Society for the Promotion of Science (JSPS)
DOI 10.1038/s10038-025-01356-8
WOS ID 001533620200001
Scopus ID 105011144682
PubMed ID 40696135
Erfassungsdatum 2025-07-25
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