Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.
Hereditary hyperferritinaemia-cataract syndrome (HHCS) (OMIM #600886) is a rare autosomal dominant condition identified by high serum ferritin levels with normal iron saturation and distinctive bilateral cataract. It may be misdiagnosed as haemochromatosis and such patients become anaemic as a result of inappropriate venesection. The elevated serum ferritin is due to a mutation in the iron-responsive element (IRE) of the l-ferritin gene, resulting in excessive l-ferritin production. We report the identification of three Australian pedigrees; one with a previously described mutation at position 40, a pedigree with a novel mutation at position 39 and an individual with a de novo mutation at position 32 of the l-ferritin IRE.
McLeod
Janet L
JL
Douglas Hocking Research Institute, Geelong, Australia. janetmc@barwonhealth.org.au
Craig
Jamie
J
Gumley
Sarah
S
Roberts
Sarah
S
Kirkland
Mark A
MA
D000328:Adult; D001315:Australia; D002386:Cataract / Q000097:blood*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics; D006801:Humans; D035925:Iron-Regulatory Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome
D035925:Iron-Regulatory Proteins; D005293:Ferritins