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Article

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Ferro Elisa, Capra Anna Paola, Zirilli Giuseppina, Meduri Alessandro, Urso Mario, Briuglia Silvana, La Rosa Maria Angela

Abstract excerpt

We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. The family diagnosis of HHCS took place after finding high ferritin levels in a 6-year-old girl. Seven members of the family had...

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PMID: 29426274
DOI: 10.1177/1093526618755200

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FTL

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