["Hyperferritinemia-cataract syndrome." Description of a new hereditary disease, from anamnesis to molecular diagnosis].
A new autosomal-dominant genetic disorder, which has been recently identified by our group is described. The disease is clinically characterized by the combination of a substantial increase of serum ferritin and early-onset bilateral cataract. Moreover, it is clearly distinguishable from genetic hemochromatosis because of: 1) normal to low serum iron and transferrin saturation, without evidence of parenchymal iron overload; 2) the dominant transmission; 3) the lack of any relation with HLA; 4) the rapid development of iron-deficient anemia when unnecessary phlebotomies are performed. The molecular basis of the new syndrome is a mutation in the L-subunit ferritin gene on chromosome 19 (19q13.3-->19qter). The mutation involves a five nucleotide sequence [CAGUG] of the iron-responsive-element (IRE), which is critical for the post-transcriptional regulation of ferritin synthesis by means of the binding with an Iron Regulatory Protein. As a consequence, ferritin synthesis is up-regulated, irrespective of cell iron status.
Girelli
D
D
Istituto di Patologia Medica, Cattedra di Medicina Interna, Università degli Studi, Verona.
Piccoli
P
P
Corrocher
R
R
D000328:Adult; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D005293:Ferritins / Q000097:blood* / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome
D005293:Ferritins