Identification of a novel mutation in the L‐ferritin IRE leading to hereditary hyperferritinemia‐cataract syndrome

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...

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Veröffentlicht in:	American journal of medical genetics. Part A 2005-04, Vol.134A (1), p.77-79
Hauptverfasser:	Phillips, John D., Warby, Christy A., Kushner, James P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence cataract Cataract - blood Cataract - pathology DNA Mutational Analysis Female Ferritins - blood Ferritins - genetics Humans hyperferritinemia Iron - metabolism Iron Metabolism Disorders - blood Iron Metabolism Disorders - genetics Iron Metabolism Disorders - pathology iron responsive element (IRE) Male Middle Aged Mutation Pedigree Response Elements - genetics Syndrome
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Zusammenfassung:	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. © 2005 Wiley‐Liss, Inc.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.30425