Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis |
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Authors: | Lee Pauline L Barton James C Brandhagen David Beutler Ernest |
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Institution: | Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA. plee@scripps.edu |
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Abstract: | Mutations in the chromosome 1q-linked gene hemojuvelin (HJV) have recently been found to be a cause of juvenile haemochromatosis. We addressed the question of whether hemojuvelin mutations may influence the phenotype of patients with adult-onset haemochromatosis with or without mutations of the HFE gene. We sequenced the complete coding region of 133 subjects with iron overload. To screen a large number of patients, we also developed conditions for analysis by denaturing high-performance liquid chromatography (dHPLC). This diagnostic modality detects many mutations of the HJV gene. One patient with severe iron overload was found to be a compound heterozygote for HJV mutations, one of which had previously been identified in patients with juvenile haemochromatosis (G320V) and the other was novel (C321W). A number of other mutations were identified, but none were clearly associated with increases in the body iron burden. Notable among these was a DNA triplet insert, predicting an insertion of glycine, found in two African-American subjects, one with and one without iron storage disease. |
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Keywords: | haemochromatosis hemojuvelin mutations polymorphisms denaturing high-performance liquid chromatography |
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