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SAOUSSEN M’DIMEGH CÉCILE AQUAVIVA-BOURDAIN ASMA OMEZZINE IBTIHEL M’BAREK GENEVIÉVE SOUCHE DORSAF ZELLAMA KAMEL ABIDI ABDELATTIF ACHOUR TAHAR GARGAH SAOUSSEN ABROUG ALI BOUSLAMA 《Journal of genetics》2016,95(3):659-666
Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine : glyoxylate aminotransferase (AGT) which is deficient or mistargeted to mitochondria. PH1 shows considerable phenotypic and genotypic heterogeneity. The incidence and severity of PH1 varies in different geographic regions. DNA samples of the affected members from two unrelated Tunisian families were tested by amplifying and sequencing each of the AGXT exons and intron–exon junctions. We identified a novel frameshift mutation in the AGXT gene, the c.406_410dupACTGC resulting in a truncated protein (p.Gln137Hisfs*19). It is found in homozygous state in two nonconsanguineous unrelated families from Tunisia. These molecular findings provide genotype/phenotype correlations in the intrafamilial phenotypic and permit accurate carrier detection, and prenatal diagnosis. The novel p.Gln137Hisfs*19 mutation detected in our study extend the spectrum of known AGXT gene mutations in Tunisia. 相似文献
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