Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain.
The hyperferritinemia-cataract syndrome, inherited as a Mendelian dominant trait, is due to mutations in the 5' non-coding region of the ferritin light chain gene that modifies the shape of the IRE (iron responsive element) region, which loses its normal function of regulating the synthesis of ferritin light chains. Excess of light chains results in complexes that accumulate into the lens giving rise to early cataracts. We present a Spanish family with seven affected members through three generations. A genetic study reveals a substitution of a single base (C-->T) at position 33 in the IRE sequence in the index case and in one affected brother, whereas a non-affected sister shows the normal sequence. The hyperferritinemia-cataract syndrome was identified in 1995 and is still poorly understood. Clinicians should suspect it when treating any subject with early cataracts, even more if they are familial, or in patients with very high levels of ferritinemia without evidence of iron overload. There are no known consequences of the syndrome other than cataracts, and its proper diagnosis carries a favorable prognosis and eliminates the risk of unnecessary phlebotomies.
Department of Gastroenterology, Hospital Clínico San Carlos, Universidad Complutense, Madrid, Spain. jladero.hcsc@salud.madrid.org
J M
JM
Ladero
A
A
Balas
F
F
García-Sánchez
J L
JL
Vicario
M
M
Díaz-Rubio
D000328:Adult; D002386:Cataract / Q000097:blood / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000235:genetics*; D035925:Iron-Regulatory Proteins / Q000097:blood / Q000235:genetics; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013030:Spain; D013577:Syndrome
D035925:Iron-Regulatory Proteins; D005293:Ferritins