PMID- 15324319
OWN - NLM
STAT- MEDLINE
DCOM- 20050308
LR  - 20221207
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 66
IP  - 3
DP  - 2004 Sep
TI  - A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) 
      associated with hemochromatosis and iron overload in a C282Y heterozygote.
PG  - 214-6
AB  - A 62-year-old white man with a hemochromatosis phenotype was found to be 
      heterozygous for the C282Y mutation of the HFE gene. The H63D and S65C mutations 
      of HFE were not present. As most C282Y heterozygotes do not develop a 
      hemochromatosis phenotype, the coding region of the patient's HFE gene was 
      sequenced and a previously undescribed frameshift mutation was identified in exon 
      2 (c.del277; G93fs) that resulted in a premature stop-codon. There were no coding 
      region mutations of the ferroportin gene (FPN1). We performed human leukocyte 
      antigen (HLA) typing of the patient and his brother who was heterozygous for the 
      C282Y HFE mutation unassociated with a hemochromatosis phenotype. They shared 
      only C282Y and the HLA haplotype A*03, B*14; hence, the c.del277 mutation was 
      linked to the HLA haplotype A*02, B*44 and therefore not on the same chromosome 
      as the C282Y mutation. Thus, the present patient's only intact HFE protein is 
      C282Y, and this may explain his hemochromatosis phenotype.
FAU - Barton, J C
AU  - Barton JC
AD  - Southern Iron Disorders Center, Birmingham, AL, USA. ironmd@dnamail.com
FAU - West, C
AU  - West C
FAU - Lee, P L
AU  - Lee PL
FAU - Beutler, E
AU  - Beutler E
LA  - eng
GR  - DK53505-04/DK/NIDDK NIH HHS/United States
GR  - RR00833/RR/NCRR NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Codon, Nonsense)
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Codon, Nonsense/genetics
MH  - DNA Mutational Analysis
MH  - Frameshift Mutation/*genetics
MH  - HLA Antigens/metabolism
MH  - Hemochromatosis/*genetics
MH  - Hemochromatosis Protein
MH  - Heterozygote
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Sequence Alignment
MH  - Sequence Analysis, DNA
MH  - White People
EDAT- 2004/08/25 05:00
MHDA- 2005/03/09 09:00
CRDT- 2004/08/25 05:00
PHST- 2004/08/25 05:00 [pubmed]
PHST- 2005/03/09 09:00 [medline]
PHST- 2004/08/25 05:00 [entrez]
AID - CGE285 [pii]
AID - 10.1111/j.1399-0004.2004.00285.x [doi]
PST - ppublish
SO  - Clin Genet. 2004 Sep;66(3):214-6. doi: 10.1111/j.1399-0004.2004.00285.x.