Fontaine progeroid syndrome

Definition:

Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss syndrome and Fontaine-Farriaux syndrome. Because they share similar clinical manifestations and have common genetic basis, it has been proposed to be integrated into a single disorder.

References:

[1]. Jaehui Ryu, et al. A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up. BMC Med Genet. 2019 Nov 27;20(1):188. [Content Brief]

[2]. Karin Writzl, et al. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. Am J Hum Genet. 2017 Nov 2;101(5):844-855. [Content Brief]

[3]. Nadja Ehmke, et al. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 2;101(5):833-843. [Content Brief]

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