title: Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome.
abstract: The hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disorder due to mutations affecting the iron responsive element (IRE) of the L-ferritin mRNA. We report on a new mutation, 43G > A, in the loop of the stem-loop structure of the L-ferritin IRE in the proband of a pedigree with early-onset bilateral cataracts.
authors.affiliation: Department of Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
authors.forename: John D
authors.initials: JD
authors.lastname: Phillips
authors.forename: Christy A
authors.initials: CA
authors.lastname: Warby
authors.forename: James P
authors.initials: JP
authors.lastname: Kushner
mesh_terms: D001483:Base Sequence; D002386:Cataract / Q000097:blood / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D019189:Iron Metabolism Disorders / Q000097:blood / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020218:Response Elements / Q000235:genetics*; D013577:Syndrome
chemical_list: D005293:Ferritins; D007501:Iron