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A double mutation in AGXT gene in families with primary hyperoxaluria type 1
- Source :
- Gene. 531(2)
- Publication Year :
- 2013
-
Abstract
- Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inherited disorder of glyoxylate metabolism caused by mutations in the AGXT gene on chromosome 2q37.3 that encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. These mutations are found throughout the entire gene and cause a wide spectrum of clinical severity. Rare in Europe, PH1 is responsible for 13% of the end stage renal failure in the Tunisian child. In the present work, we identified the double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with PH1 disease. Our results provide evidence regarding the potential involvement of c.32C>T, originally described as common polymorphism, on the resulting phenotype. We also reported an extreme intrafamilial heterogeneity in clinical presentation of PH1. Despite the same genetic background, the outcome of the affected members differs widely. The significant phenotypic heterogeneity observed within a same family, with a same genotype, suggests the existence of relevant modifier factors.
- Subjects :
- Adult
Male
Tunisia
Adolescent
Biology
Polymorphism, Single Nucleotide
End stage renal disease
Primary hyperoxaluria
Consanguinity
Young Adult
Polymorphism (computer science)
Genotype
Genetics
medicine
Humans
Child
Gene
Transaminases
Genetic heterogeneity
Chromosome
General Medicine
Middle Aged
medicine.disease
Phenotype
Pedigree
Hyperoxaluria, Primary
Mutation
Female
Subjects
Details
- ISSN :
- 18790038
- Volume :
- 531
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....9ff628ef43371f07cf4089638e2d4614