Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

Human Mutation

Volumn 12, Issue 1, 1998, Pages 19-26

  Bergman, A J I W ^a   Van Den Berg, I E T ^a   Brink, W ^a   Poll The, B T ^a   Ploos Van Amstel, J K ^b,c   Berger, R ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Clinical Genetics Center Utrecht   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Fumarylacetoacetate hydrolase; Geographic distribution; Hereditary tyrosinemia type 1; Mutations, genotype phenotype relationship

Indexed keywords

FUMARYLACETOACETASE;

ARTICLE; CLINICAL ARTICLE; EUROPE; GENE DELETION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; INCIDENCE; MISSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE DIFFERENCE; SITE DIRECTED MUTAGENESIS; TYROSINEMIA;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; DNA; EUROPE; GENETIC HETEROGENEITY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDROLASES; MEDITERRANEAN REGION; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TYROSINE;

EID: 0031776708     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3     Document Type: Article

References (28)

1. Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I (1994) Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I Biochim Biophys Acta 1226:168-172.
2. Basaran N, Sayli BS, Basaran A, Solak M, Artan S, Stevenson JD (1988) Consanguineous marriages in the Turkish population. Clin Genet 34:339-341
3. Cooper DN, Krawczak M (1993) Gene deletions. In Human Gene Mutations. Oxford: BIOS Scientific, pp 163-208.
4. DeBraekeeler MJ, Larochelle J (1990) Genetic epidemiology of hereditairy tyrosinemia in Quebec and the Saguenay-Lac-St Jean. Am J Hum Genet 47:302-307.
5. Demers SI, Phaneuf D, Tanguay RM (1994) Hereditairy tyrosineima type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. Am J Hum Genet 55:327-333.
6. Grompe M, Al-Dhalimy M (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia type I. Hum Mutat 2:85-93.
7. Grompe M, St-Louis M, Demers SI, Al-Dhalimy M, Leclerc B, Tanguay RM (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med 331:353-357.
8. Hahn SH, Brantly ML, Chou J, Krasnewich DM, Kvittingen EA, Gahl WA (1994) Mutation analysis of the fumarylacetoacetate hydrolase gene in an American boy with tyrosinemia type I, retrovirus-mediated transfer of recombinant FAH gene to the mutant fibroblasts. In the Sixth International Congress, Inborn Errors of Metabolism, Milan, Italy, May 27-31.
9. Kvittingen EA, Rootwelt H, Brandzaeg P, Bergan A, Berger R (1993) Hereditary tyrosinemia type I, self induced correction of the fumarylacetoacetase defect. J Clin Invest 91:1816-1821.
10. Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P (1994) Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 94:1657-1661.
11. Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (1993) Characterization of the human fumarylacetoacetate hydrolyse gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 2:941-946.
12. Laberge C (1969) Hereditary tyrosinemia in a French Canadian isolate. Am J Hum Genet 21:36-45.
13. Mitchell GA, Lambert M, Tanguay RM (1996) Hypertyrosinemia type I. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, New York, pp 1077-1106.
14. Overturf K, Al-Dhalimy M, Tanguay R, Brantly M, Ou C-N, Finegold M, Grompe M (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nature Genet 12: 266-273.
15. Phaneuf D, Labelle Y, Bérubé A, Arden K, Cavenee W, Gagné R, Tanguay RM (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: Assignment of the gene to chromosome 15. Am J Hum Genet 48:525-535.
16. Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (1992) Type 1 hereditary tyrosinemia, evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 90:1185-1192.
17. Ploos van Amstel JK, Bergman AJIW, Beurden van EACM, Roijers JFM, Peelen T, Berg van den IET, Poll-The BT, Kvittingen EA, Berger R (1996) Hereditary tyrosinemia type 1: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene, variability of the genotype-phenotype relationship. Hum Genet 97:51-59.
18. Rootwelt H, Chou J, Gahl WA, Berger R, Coskun? T, Brodtkorb E, Kvittingen EA (1994a) Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. Hum Genet 93:615-619.
19. Rootwelt H, Kristensen T, Berger R, Hoie K, Kvittingen EA (1994b) Tyrosinemia type 1: Complex splicing defects and a missense mutation in the fumarylacetoacetase gene. Hum Genet 94:235-239.
20. Rootwelt H, Berger R, Gray G, Kelly DA, Coskun T, Kvitringen EA (1994c) Novel splice, missense and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. Am J Hum Genet 55:653-658.
21. Rootwelt H, Brodtkorb E, Kvittingen EA (1994d) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. Am J Genet 55:1122-1127.
22. Rootwelt H, Hoie K, Berger R, Kvittingen EA (1996) Fumarylacetoacetase mutations in tyrosinaemia type I. Hum Mutat 7:239-243.
23. Saiki RK, Sharf S, Faloona F, Mullis KB, Horn GT, Ehrlich MA, Arnheim N (1985) Enzymatic amplification of beta globulin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230:1350-1354.
24. St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet 3:69-72.
25. St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Lafraraboise R, Tanguay RM (1995) Two novel mutations involved in hereditary tyrosinemia type I. Hum Mol Genet 4:319-320.
26. Timmers C, Grompe M (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene in patients with hereditary tyrosinemia type I. Hum Mutat 7:367-369.
27. Van Spronsen FJ, Thomasse Y, Smit GPA, Leonard JV, Clayton PT, Filder V, Berger R, Heymans HSA (1994) Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment. Hepatology 20:1187-1191.
28. Zlotogora J (1997) Genetic disorders among Palestinian Arabs. Am J Med Genet 68:472-475.