Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa

Nagara, Majdi; Tiar, Afaf; Rhouma, Faten Ben; Messaoud, Olfa; Bouyacoub, Yosra; Kéfi, Rym; Hassayoun, S.; Zouari, Noura; Ammar, Mohamed Slim Ben; Abdelhak, Sonia; Chemli, J.

doi:10.1016/j.gene.2013.06.023

Cited by 20 publications

(22 citation statements)

References 25 publications

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“…The first time, it was reported by von Schnakenburg and Rumsby () and in an Israelii report in a family with Arab origin (Rinat et al., ). Also, it was reported in a previous Tunisian study in three patients from central Tunisia (Nagara et al., ). It has been found on both the Min and Maj AGXT alleles (Rinat et al., ; Williams et al., ).…”

Section: Discussionsupporting

confidence: 59%

“…It remains under diagnosed because of the large variability in its clinical presentation, age of onset and allelic heterogeneity. To our knowledge, this is the largest cohort of Tunisian PH1 patients compared with other cohort studies (Benhaj Mbarek et al., ; Kanoun et al., ; Nagara et al., ). Furthermore, it is the largest Tunisian cohort reported that systematically searched for PH1 patients in both pediatric and adult populations.…”

Section: Discussionmentioning

confidence: 86%

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Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1

M'dimegh

Omezzine

M'barek

et al. 2016

Annals of Human Genetics

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Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 86%

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1

M'dimegh

Omezzine

M'barek

et al. 2016

Annals of Human Genetics

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“…Excessive oxalate excretion is an indicator of this disease; however, the test is not specific for PH1 and may have misleading results because oxalate excretion may be reduced during renal failure [2,10,11]. Thus, more sophisticated tests, including genetic analysis and/or enzymology, are required for diagnosis [12-14]. Although a few sporadic cases of PH1 have been reported in mainland China, mutational analysis of AGXT was not performed in these cases.…”

Section: Introductionmentioning

confidence: 99%

Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1

Shen

et al. 2014

BMC Nephrol

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BackgroundPrimary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis.MethodsTwo unrelated patients with recurrent urolithiasis, along with members of their families, exhibited mutations in the AGXT gene by PCR direct sequencing.ResultsTwo heterozygous mutations that predict truncated proteins, p.S81X and p.S275delinsRAfs, were identified in one patient. The p.S81X mutation is novel. Two heterozygous missense mutations, p.M1T and p.I202N, were detected in another patient but were not identified in her sibling. These four mutations were confirmed to be of paternal and maternal origin.ConclusionsThese are the first cases of primary hyperoxaluria type 1 to be diagnosed by clinical manifestations and AGXT gene mutations in mainland China. The novel p.S81X and p.I202N mutations detected in our study extend the spectrum of known AGXT gene mutations.

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“…Given to her strategic geographical position and the historical invasive flows that took place in North Africa, Tunisia is considered as a crossroads of civilizations [20]. We hypothesize that 33_34InsC variation, is associated with a specific population or ethnic group and might have been introduced in Tunisia, as many other variations [21], during the Roman settlement up to the fifth century AC. Interestingly, 75% of our patients are originated from the cities (Kasserine, Mahdia, and Sfax), known for a long Roman colonization.…”

Section: Discussionmentioning

confidence: 99%

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

et al. 2017

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BackgroundPrimary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients.MethodsCommon mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1.ResultsWe described 16 cases (eight adult and eight children) with a 33-34InsC mutation with a median age of 24 years [6 months - 73 years]. All children were in end stage renal disease (ESRD) at the median age of 3 years due to lithiasis and/or nephrocalcinosis. Unfortunately, 75% of them died with a median age of 2.5 years. For the majority of adults only spontaneous elimination of urolithiasis were noted, 37.5% preserved until now a normal renal function and 62.5% of them reached ESRD at the median age of 55.8 ± 12.31 years old.ConclusionIn this study 33-34InsC mutation gives a controversial clinical effect in children and adults. The implication of other genetic and/or environmental factors can play a crucial role in determining the ultimate phenotype.

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Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa

Cited by 20 publications

References 25 publications

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1

Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

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