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      A double mutation in AGXT gene in families with primary hyperoxaluria type 1

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      Gene

      Elsevier BV

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          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.

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          Author and article information

          Journal
          Gene
          Gene
          Elsevier BV
          03781119
          December 2013
          December 2013
          : 531
          : 2
          : 451-456
          Article
          10.1016/j.gene.2013.08.083
          24012869
          © 2013

          https://www.elsevier.com/tdm/userlicense/1.0/

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