A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient

ArdenKE, WallaceDF, DixonJL, SummervilleL, SearleJW, AndersonGJ, RammGA, PowellLW and Subramaniam, V. N. (2003) A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut, 52 8: 1215-1217. doi:10.1136/gut.52.8.1215


Author ArdenKE
WallaceDF
DixonJL
SummervilleL
SearleJW
AndersonGJ
RammGA
PowellLW
Subramaniam, V. N.
Title A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient
Formatted title
A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient
Journal name Gut   Check publisher's open access policy
ISSN 1468-3288
0017-5749
Publication date 2003-08
Sub-type Article (original research)
DOI 10.1136/gut.52.8.1215
Volume 52
Issue 8
Start page 1215
End page 1217
Total pages 3
Place of publication London, England
Publisher BMJ Group
Language eng
Subject 11 Medical and Health Sciences
1103 Clinical Sciences
Formatted abstract
Background: A severe form of iron overload with the clinicopathological features of haemochromatosis inherited in an autosomal dominant manner has been described in the Solomon Islands. The genetic basis of the disorder has not been identified. The disorder has similarities to type 4 haemochromatosis, which is caused by mutations in ferroportin1.

Aims: The aims of this study were to identify the genetic basis of iron overload in a patient from the Solomon Islands.

Patient and methods: Genomic DNA was isolated from peripheral blood leucocytes of a Solomon Islands man with severe iron overload. The entire coding region and splice sites of the ferroportin1 gene was sequenced.

Results and conclusions: A novel missense mutation (431A>C; N144T) was identified in exon 5 of the ferroportin1 gene. A novel restriction endonuclease based assay which identifies both the N144T and N144H mutations was developed which will simplify the diagnosis and screening of patients for iron overload in the Solomon Islands and other populations. This is the first identified mutation associated with haemochromatosis in the Solomon Islands population.
Keyword ferroportin1
Iron overload
Haemochromoatosis
Soloman Islands
Genetic
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

 
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Created: Tue, 22 Dec 2009, 09:00:22 EST by Elissa Saffery on behalf of Clinical Medical Virology Centre