Variable Presentation of Primary Hyperoxaluria Type 1 in 2 Patients Homozygous for a Novel Combined Deletion and Insertion Mutation inExon 8 of the AGXT Gene

Nephron ◽  
1998 ◽  
Vol 78 (4) ◽  
pp. 485-488 ◽  
Author(s):  
Christian von Schnakenburg ◽  
Sally A. Hulton ◽  
David V. Milford ◽  
Helen P. Roper ◽  
Gill Rumsby
Keyword(s):  
Primary Hyperoxaluria ◽  
Insertion Mutation ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Agxt Gene ◽  
Variable Presentation ◽  
Hyperoxaluria Type

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population

2015 ◽  
Vol 19 (11) ◽  
pp. 623-628 ◽  
Author(s):  
Lamiae Boualla ◽  
Mariam Tajir ◽  
Najat Oulahiane ◽  
Jaber Lyahyai ◽  
Fatima Zahra Laarabi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Moroccan Population ◽  
Primary Hyperoxaluria Type ◽  
Agxt Gene ◽  
Hyperoxaluria Type

scholarly journals Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Hossam Murad ◽  
Mohamad Baseel Alhalabi ◽  
Amir Dabboul ◽  
Nour Alfakseh ◽  
Mohamad Sayah Nweder ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Gene Mutations ◽  
Primary Hyperoxaluria ◽  
Detection Methods ◽  
Primary Hyperoxaluria Type 1 ◽  
Direct Dna Sequencing ◽  
Primary Hyperoxaluria Type ◽  
Agxt Gene ◽  
Hyperoxaluria Type

Abstract Background Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different regions. Methods Alanine glyoxylate aminotransferase (AGXT) gene mutations have been analyzed by using molecular detection methods based on the direct DNA sequencing for all exons of the AGXT gene. Results Seventeen pathogenic mutations were detected in our patients. Six mutations were novels. The three most frequent mutations were c.33_34insC (p.Lys12fs) in Exon 1, c.584 T < G; p.Met195Arg in exon 5 and c.1007 T > A (p.Val336Asp) in exon 10, with a frequency of 33.3%, 12.2%, and 11.1%, respectively. Conclusion DNA sequencing used in this study can offer a useful method to investigate the mutations in Syrian PH-1 patients, and could offer an accurate tool for prenatal diagnosis and genetic counseling.

scholarly journals Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1

2007 ◽  
Vol 53 (7) ◽  
pp. 1216-1221 ◽  
Author(s):  
Emma Williams ◽  
Gill Rumsby
Keyword(s):  
Molecular Diagnosis ◽  
Primary Hyperoxaluria ◽  
Definitive Diagnosis ◽  
Minimal Risk ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Agxt Gene ◽  
Hyperoxaluria Type

Abstract Background: Definitive diagnosis of primary hyperoxaluria type 1 (PH1) requires analysis of alanine:glyoxylate aminotransferase (AGT) activity in the liver. We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G&gt;A, and c.731T&gt;C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy. Having reviewed the distribution of all AGXT mutations, we have evaluated a diagnostic strategy that uses selected exon sequencing for the molecular diagnosis of PH1. Methods: We sequenced exons 1, 4, and 7 for 300 biopsy-confirmed PH1 patients and expressed the identified missense mutations in vitro. Results: Our identification of at least 1 mutation in 224 patients (75%) and 2 mutations in 149 patients increased the diagnostic sensitivity to 50%. We detected 29 kinds of sequence changes, 15 of which were novel. Four of these mutations were in exon 1 (c.2_3delinsAT, c.30_32delCC, c.122G&gt;A, c.126delG), 7 were in exon 4 (c.447_454delGCTGCTGT, c.449T&gt;C, c.473C&gt;T, c.481G&gt;A, c.481G&gt;T, c.497T&gt;C, c.424-2A&gt;G), and 4 were in exon 7 (c.725insT, c.737G&gt;A, c.757T&gt;C, c.776 + 1G&gt;A). The missense changes were associated with severely decreased AGT catalytic activity and negative immunoreactivity when expressed in vitro. Missense mutation c.26C&gt;A, previously described as a pathological mutation, had activity similar to that of the wild-type enzyme. Conclusions: Selective exon sequencing can allow a definitive diagnosis in 50% of PH1 patients. The test offers a rapid turnaround time (15 days) with minimal risk to the patient. Demonstration of the expression of missense changes is essential to demonstrate pathogenicity.

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

Gene ◽  
2013 ◽  
Vol 531 (2) ◽  
pp. 451-456 ◽  
Author(s):  
Houda Kanoun ◽  
Faiçal Jarraya ◽  
Ikhlass Hadj Salem ◽  
Hichem Mahfoudh ◽  
Yosr Chaabouni ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Double Mutation ◽  
Primary Hyperoxaluria Type ◽  
Agxt Gene ◽  
Hyperoxaluria Type
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