Hum Genome Var. 2025 Nov 21;12(1):26. doi: 10.1038/s41439-025-00331-1.
ABSTRACT
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.
PMID:41271664 | DOI:10.1038/s41439-025-00331-1
