A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation

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 het...

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Bibliographic Details
Published in:	Journal of genetics Vol. 95; no. 3; pp. 659 - 666
Main Authors:	M’DIMEGH, SAOUSSEN, AQUAVIVA-BOURDAIN, CÉCILE, OMEZZINE, ASMA, M’BAREK, IBTIHEL, SOUCHE, GENEVIÉVE, ZELLAMA, DORSAF, ABIDI, KAMEL, ACHOUR, ABDELATTIF, GARGAH, TAHAR, ABROUG, SAOUSSEN, BOUSLAMA, ALI
Format:	Journal Article
Language:	English
Published:	New Delhi Springer India 01-09-2016 Springer Springer Nature B.V
Subjects:	Animal Genetics and Genomics Base Sequence Biomedical and Life Sciences Child Evolutionary Biology Exons Female Frameshift Mutation Gene Expression Gene mutations Genes Genes, Recessive Genetic aspects Genetic Association Studies Genome-Wide Association Study Genotype Genotype & phenotype Heterozygote Homozygote Humans Hyperoxaluria, Primary - diagnosis Hyperoxaluria, Primary - genetics Hyperoxaluria, Primary - pathology Introns Life Sciences Male Metabolic disorders Microbial Genetics and Genomics Mutation Pedigree Phenotype Plant Genetics and Genomics Polymorphism, Genetic Research Article Severity of Illness Index Studies Transaminases - genetics Tunisia Young Adult gene primary hyperoxaluria type 1 genotype–phenotype correlations
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Summary:	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.Gln137Hisfs19). 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.Gln137Hisfs19 mutation detected in our study extend the spectrum of known AGXT gene mutations in Tunisia.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-1333 0973-7731
DOI:	10.1007/s12041-016-0676-4