Phenotype: Hyperoxaluria, primary, type 1


OMIM: 259900
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

AGXT || c.731T>C (734T>C)

Gene/Locus:    AGXT
Dna Change:    c.731T>C (734T>C)
Protein Change:    p.Ile244Thr
Mutation Type:   
Mutation Effect:   
Location:    Exon 7
Transcript:    NM_000030.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA7 patients/9 patientsNAChemli J et al., 2007Chemli J, Abdennabi H, Zorgati M, Abdelhak S, Nabli N, Abroug S, Sfar MT, Ben Dhia N, Amri F, Harbi A, . [Primary hyperoxaluria in children in central Tunisia].. Tunis Med. 2007; 85(6):513-8
TunisiaNANA68% of patientsNABenhaj Mbarek I et al., 2011Benhaj Mbarek I, Abroug S, Omezzine A, Zellama D, Achour A, Harbi A, Bouslama A, . Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.. BMC Nephrol. 2011; 12(0):25

References

Benhaj Mbarek I, Abroug S, Omezzine A, Zellama D, Achour A, Harbi A, Bouslama A, Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.BMC Nephrol. 2011; 12(0):25

Chemli J, Abdennabi H, Zorgati M, Abdelhak S, Nabli N, Abroug S, Sfar MT, Ben Dhia N, Amri F, Harbi A, [Primary hyperoxaluria in children in central Tunisia].Tunis Med. 2007; 85(6):513-8