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HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.

Human mutation - 1 Dec 2022

Abid Aiysha, Raza Ali, Aziz Tahir, Khaliq Shagufta

Abstract excerpt

Primary hyperoxalurias (PH) are a group of rare heterogeneous disorders characterized by deficiencies in glyoxylate metabolism. To date, three genes have been identified to cause three types of PH (I, II, and III). The HOGA1 gene caused type III in around 10% of the PH cases. Disease-associated pathogenic variants have been reported from several populations and a comprehensive spectrum of these mutations and...

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PMID: 36259736
DOI: 10.1002/humu.24490

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