Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

British Journal of Haematology

Volumn 118, Issue 4, 2002, Pages 1179-1182

  McLeod, Janet L ^a,d   Craig, Jamie ^b,c   Gumley, Sarah ^a   Roberts, Sarah ^a   Kirkland, Mark A ^a  

^a Douglas Hocking Research Institute   (Australia)

^b ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^c FLINDERS UNIVERSITY   (Australia)

^d GEELONG HOSPITAL   (Australia)

Author keywords

Cataract; Hereditary hyperferritinaemia cataract syndrome; Iron responsive element; L ferritin; Novel mutation

Indexed keywords

DNA; FERRITIN; IRON; LIGHT CHAIN FERRITIN; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT DISORDER; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FERRITIN BLOOD LEVEL; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERFERRITINEMIA; HYPERFERRITINEMIA CATARACT SYNDROME; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; IRON STORAGE; LENS; LIVER BIOPSY; MALE; MATURITY ONSET DIABETES MELLITUS; MONONUCLEAR CELL; MUTATIONAL ANALYSIS; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN COLOR; TRANSFERRIN BLOOD LEVEL;

ADULT; AUSTRALIA; CATARACT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FERRITINS; HUMANS; IRON-REGULATORY PROTEINS; MALE; MIDDLE AGED; PEDIGREE; SYNDROME;

EID: 0036049805     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03690.x     Document Type: Article

References (12)

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2. Hereditary hyperferritinemia cataract syndrome: A de novo mutation in the iron responsive element of the ferritin gene
3. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
4. Lens changes in hereditary hyperferritinaemia-cataract syndrome
5. Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: Identification of the new mutation C14G
6. Molecular basis for the recently described hereditary hyperferritinaemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the 'Verona mutation')
7. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract
8. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome
9. Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinaemia-cataract syndrome
10. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with hereditary hyperferritinaemia-cataract syndrome
11. Hereditary hyperferritinaemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
12. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family