Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms

Mutations of the L-ferritin gene (FTL) are associated with two types of dominant genetic disorder: hereditary hyperferritinaemia cataract syndrome caused by modifications of the iron responsive element in the 59UTR which upregulate ferritin expression, and hereditary neuroferritinopathy caused by an adenine insertion at position 460–461 of the mRNA coding region. We report the identification of the heterozygous mutation 1ARG which alters the ATG start codon in a healthy control subject with normal haematological indices and no signs of neurological or movement disorders, but with low levels of L-ferritin in serum and in blood cells. The data indicate that haploinsufficiency of L-ferritin protein has no evident clinical effects on systemic iron metabolism, and suggest that the defects caused by the FTL mutation in neuroferritinopathy probably originate from abnormal properties of the altered protein.