Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.

ABSTRACT: Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were subm

SUBMITTER: Petroni RC 

PROVIDER: S-EPMC5875167 | biostudies-literature | 2017 Oct-Dec

REPOSITORIES: biostudies-literature