A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation
| Autor: | Asma Omezzine, Tahar Gargah, Geneviéve Souche, Dorsaf Zellama, Ali Bouslama, Ibtihel M'barek, Saoussen M'dimegh, Abdelattif Achour, Kamel Abidi, Saoussen Abroug, Cécile Aquaviva-bourdain |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Heterozygote Tunisia Genotype 030232 urology & nephrology Gene Expression Genes Recessive Genome-wide association study Gene mutation Biology medicine.disease_cause Severity of Illness Index Frameshift mutation Young Adult 03 medical and health sciences Exon 0302 clinical medicine Genetics Primary Hyperoxaluria Type I medicine Humans Child Frameshift Mutation Gene Genetic Association Studies Transaminases Mutation Polymorphism Genetic Base Sequence Homozygote Exons Molecular biology Introns Pedigree Phenotype 030104 developmental biology Hyperoxaluria Primary Female Genome-Wide Association Study |
| Zdroj: | Journal of Genetics. 95:659-666 |
| ISSN: | 0973-7731 0022-1333 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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