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

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 diagnos...

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Bibliographic Details
Published in:Pediatric and developmental pathology 2018-09, Vol.21 (5), p.456-460
Main Authors: Ferro, Elisa, Capra, Anna Paola, Zirilli, Giuseppina, Meduri, Alessandro, Urso, Mario, Briuglia, Silvana, La Rosa, Maria Angela
Format: Article
Language:English
Subjects:
Apoferritins - genetics
Cataract - congenital
Cataract - genetics
Child
Female
Humans
Iron Metabolism Disorders - congenital
Iron Metabolism Disorders - genetics
Italy
Male
Mutation
Pedigree
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Summary: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.
ISSN:1093-5266
1615-5742
DOI:10.1177/1093526618755200