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Article

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

Clinical genetics - 1 May 2025

Boussion Simon, Aumar Madeleine, Hutt Antoine, Fron Damien, Fayoux Pierre, Ghoumid Jamal, Gottrand Frédéric, Smol Thomas

Abstract excerpt

Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.(Lys53Arg) missense variant. We report the third case of PAICS deficiency in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39726239
DOI: 10.1111/cge.14681

Genes

PAICS

Variants

Provenance

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