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Identification of a novel mutation in the L ‐ferritin IRE leading to hereditary hyperferritinemia‐cataract syndrome
Author(s) -
Phillips John D.,
Warby Christy A.,
Kushner James P.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30425
Subject(s) - proband , ferritin , cataracts , mutation , genetics , medicine , biology , gene , pathology
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.
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