ABSTRACTObjectives: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts. It is often caused by mutations in the iron response element (IRE) of the ferritin L-subunit (FTL) gene. Here, we report a 73-year-old woman who presented to clinic with persistently elevated serum ferritin and family history of juvenile bilateral cataracts in four generations.Methods: Exome sequencing was used to identify the mutation of the FTL gene. Moreover, Sanger sequencing was performed to validate the mutation in the proband. We also reviewed the FLT gene mutations in published HHCS cases to provide experience for accurate diagnosis of similar patients.Results: A heterozygous mutation at position +33 (c.-167C > T, chr19:49468598) of the FTL gene was identified in the patient.Discussion: HHCS should be considered in the differential diagnosis of hyperferritinemia, especially in the presence of normal serum iron concentration and transferrin saturation.Conclusion: For patients with unexplained hyperferritinemia and bilateral cataracts who have experienced early vision loss, the establishment of genetic counseling is essential to diagnose other family members who are at risk in time.Abbreviations: FTL: ferritin L-subunit; HHCS: hereditary hyperferritinaemia cataract syndrome; IDT: integrated DNA technologies; IRE: iron response element; IRP: iron regulatory proteins; MRI: magnetic resonance imaging; SNV: single nucleotide variant; UTR: untranslated region.
Keywords: L-ferritin; cataract; hereditary hyperferritinaemia cataract syndrome; mutation.