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Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase
Open accessAbstract
Hereditary tyrosinemia type 1, due to a deficiency of fumarylacetoacetase (FAH), is characterized by progressive liver damage and renal tubular dysfunction and may occur in an acute or a chronic form. An Ala 134 to Asp (GCT to GAT) transition was found in one Turkish and two Norwegian patients with chronic tyrosinemia. SphI digestion of polymerase chain reaction (PCR) amplified genomic DNA identified the mutation and showed that the patients were heterozygous. All these patients had immunoreactive FAH protein in fibroblasts. Another Norwegian patient with chronic disease, without FAH immunoreactive material in fibroblasts, had a Pro 342 to Leu mutation (CCG to CTG). This mutation was identified by MspI digestion of PCR amplified genomic DNA, and the patient was heterozygous. Northern blotting showed FAH mRNA of normal size and amounts in all patients. Site directed mutagenesis and translation in a rabbit reticulocyte lysate demonstrated that both mutations abolished FAH activity.
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At least 26 different mutations in FAH have been identified in HT1 patients, including missense, nonsense, and splice consensus site mutations.
“At least 26 different mutations in FAH have been identified in HT1 patients, including missense, nonsense, and splice consensus site mutations (5, 11–17).”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [12]
The Discussion reports two FAH missense mutations, A134D and P342L, in patients with chronic HT1 and suggests that additional causal mutations exist. It does not establish a total of at least 26 mutations or identify nonsense or splice-consensus-site mutations. (LLM, conf=0.88)
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Cites
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
LINDSTEDT, S. (1992) · The Lancet · doi:10.1016/0140-6736(92)92685-9 · Cited by 631
Hereditary tyrosinemia type I: Self-induced correction of the fumarylacetoacetase defect
Kvittingen, E. A., Rootwelt, H., Brandtzaeg, P., Bergan, A., & Berger, R. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116393 · Cited by 102 · cited 2×
“The three Norwegian patients have evidence of a mosaic pattern of FAH activity in liver tissue, as recently described for five other Norwegian patients with chronic HT1 (Kvittingen et al. 1993).”
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Aponte, J. L., Sega, G. A., Hauser, L. J., Dhar, M. S., Withrow, C. M., Carpenter, D. A., Rinchik, E. M., Culiat, C. T., & Johnson, D. K. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.2.641 · Cited by 68
Metadata
- Authors
- Rootwelt, H., Chou, J., Gahl, W. A., Berger, R., Coşkun, T., Brodtkorb, E., & Kvittingen, E. A.
- Affiliations
- University of Oslo (NO)
- National Institutes of Health (US)
- Wilhelmina Children's Hospital (NL)
- Hacettepe University (TR)
- Venue
- Human Genetics
- Published
- 1994-06
- Volume
- 93
- Issue
- 6
- Pages
- 615-619
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2095548508
- Cited by
- 23
- References
- 4
- Citations by year
- 2024: 1 · 2018: 1 · 2017: 1 · 2015: 1 · 2014: 1
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- green
- zenodo.org
- Licence
- public-domain
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, public-domain)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Keywords
- tyrosinemia type I, missense mutations, enzyme deficiency, heterozygous mutation, enzyme activity loss, fibroblasts, renal tubular dysfunction, liver injury
- MeSH terms
- Amino Acid Metabolism, Inborn Errors, Base Sequence, Cells, Cultured, Female, Humans, Hydrolases, Liver, Male, Molecular Sequence Data, Mutation, Pedigree, Tyrosine, DNA Primers
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