Fontaine progeroid syndrome with neonatal mitochondrial disease
Fontaine progeroid syndrome (FPS) is a rare condition characterized by abnormalities in SLC25A24. Some instances of FPS have been reported to be fatal early in life. Here we present the first case of mitochondrial disease diagnosed with FPS in Japan. The diagnosis was based on the presence of the heterozygous known pathogenic variant of SLC25A24, NM_013386.5: c.649C>T and decreased activity of mitochondrial respiratory chain enzyme activity.
Authors
- Daiki Kawamoto
- Takayuki Suzuki (ORCID: https://orcid.org/0000-0002-6532-9363)
- Kentaro Hirayama
- Takuya Sugimoto (ORCID: https://orcid.org/0000-0002-2048-5450)
- Mitsuhiko Riko
- Tomoya Tsuchihashi (ORCID: https://orcid.org/0000-0002-3042-4715)
- Yasushi Okazaki (ORCID: https://orcid.org/0000-0003-3241-5502)
- Daisuke Tokuhara (ORCID: https://orcid.org/0000-0002-2441-5062)
- Kei Murayama (ORCID: https://orcid.org/0000-0002-3923-8636)
Institutions
- Wakayama Medical University (JP)
- Juntendo University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-11-21
- DOI
- https://doi.org/10.1038/s41439-025-00331-1
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81