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: John D Phillips, Christy A Warby, James P Kushner
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 134A Issue 1 Pg. 77-9 (Apr 01 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15690351 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Ferritins
• Iron

Topics

• Base Sequence
• Cataract (blood, pathology)
• DNA Mutational Analysis
• Female
• Ferritins (blood, genetics)
• Humans
• Iron (metabolism)
• Iron Metabolism Disorders (blood, genetics, pathology)
• Male
• Middle Aged
• Mutation
• Pedigree
• Response Elements (genetics)
• Syndrome