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

Abstract

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 bilateral and symmetrical cataracts, normal iron, and hematological parameters except for high serum ferritin levels. About 160 families/unrelated cases with HHCS are known worldwide. This report documents a second Italian family, with a c.-168G>C mutation that is located in the highly conserved 3-nucleotide bulge structure of the FTL in the 5' untranslated region. This case shows how important the family history is in reaching a correct diagnosis and avoiding unnecessary and invasive analysis. HHCS should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation.

• Authors: Elisa Ferro, Anna Paola Capra, Giuseppina Zirilli, Alessandro Meduri, Mario Urso, Silvana Briuglia, Maria Angela La Rosa
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) 2018 Sep-Oct Vol. 21 Issue 5 Pg. 456-460 ISSN: 1093-5266 [Print] United States
• PMID: 29426274 (Publication Type: Case Reports, Journal Article)

Chemical References

• Apoferritins

Topics

• Apoferritins (genetics)
• Cataract (congenital, genetics)
• Child
• Female
• Humans
• Iron Metabolism Disorders (congenital, genetics)
• Italy
• Male
• Mutation
• Pedigree