ArticleGenes2026
Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis.
Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors.
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Abstract
introductionPrimary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by an excess of oxalate, which results in nephrolithiasis, nephrocalcinosis, and ultimately, renal failure and systemic oxalosis. There are 3 forms of PH, named types 1, 2, and 3, caused by variants in the
methodsWe analyzed 132 patients referred over 10 years for PH using a stepwise strategy. A step 1 test involved Sanger sequencing of exon 7 of the
resultsFirst-line Sanger sequencing identified biallelic pathogenic or likely pathogenic AGXT variants in 95 of 132 patients suspected of PH, corresponding to a diagnostic yield of 72%. Additional molecular diagnoses obtained through targeted PH panel sequencing and WES increased the final cumulative diagnostic yield to 78%. Twelve distinct variants were characterized by Sanger sequencing, with the c.731T>C in exon 7 of the
conclusionsThese results highlight the need for a simplified, exon-focused diagnostic strategy, particularly in resource-limited settings like Morocco.
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