Open AccessFontaine progeroid syndrome—A case report
Author(s) -
Lally Sinéad,
Walsh Nicola,
Kenny Janna,
Franklin Orla,
Cotter Melanie,
Richardson Sarah,
McEligott Fiona,
Finan Alan
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6291
Subject(s) - medicine , progeria , werner syndrome , genetics , gene , biology , rna , helicase
Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.