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Article

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.

International journal of molecular sciences - 21 May 2021

Celma Nos Ferran, Hernández Gonzalo, Ferrer-Cortès Xènia, Hernandez-Rodriguez Ines, Navarro-Almenzar Begoña, Fuster José Luis, Bermúdez Cortés Mar, Pérez-Montero Santiago, Tornador Cristian, Sanchez Mayka

Abstract excerpt

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5' untranslated regions (UTR) of the light ferritin (FTL) gene. A canonical IRE is a mRNA structure that interacts with the iron...

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PMID: 34064225
DOI: 10.3390/ijms22115451
PMCID: PMC8196845

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