Ontology highlight
ABSTRACT:
SUBMITTER: Yin D
PROVIDER: S-EPMC4296220 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Hepatology (Baltimore, Md.) 20140127 3
Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.-160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absenc ...[more]