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A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation |
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| Authors: | Natacha Dreumont Jacques A Poudrier Anne Bergeron Harvey L Levy Faouzi Baklouti Robert M Tanguay |
| Institution: | 1. Laboratory of Cellular and Developmental Genetics, Dept Medicine, Pavillon Marchand, Université Laval, and Centre de Recherche du CHUQ (Pav CHUL), Ste-Foy, Québec, Canada 2. Div Genetics, Children's Hospital, and Dept Pediatrics, Harvard Medical School, Boston, Mass, 02115, USA 3. CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, 69622, France |
| Abstract: | BackgroundTyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease, was found to be a compound heterozygote for a splice mutation, IVS6-1g->t, and a putative missense mutation, Q279R. Analysis of FAH expression in liver sections obtained after resection for hepatocellular carcinoma revealed a mosaic pattern of expression. No FAH was found in tumor regions while a healthy region contained enzyme-expressing nodules. |
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