PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

doi:10.1016/j.ejmg.2020.104033

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Article

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

European journal of medical genetics - 1 Nov 2020

Mercati Oriane, Abi Warde Marie-Thérèse, Lina-Granade Geneviève, Rio Marlène, Heide Solveig, de Lonlay Pascale, Ceballos-Picot Irène, Robert Matthieu P, Couloigner Vincent, Beltrand Jacques, Boddaert Nathalie, Rodriguez Diana, Rubinato Elisa, Lapierre Jean-Michel, Merlette Christophe, Sanquer Sylvia, Rötig Agnès, Prokisch Holger, Lyonnet Stanislas, Loundon Natalie, Kaplan Josseline, Bonnefont Jean-Paul, Munnich Arnold, Besmond Claude, Jonard Laurence, Marlin Sandrine

Abstract excerpt

We describe two sporadic and two familial cases with loss-of-function variants in PRPS1, which is located on the X chromosome and encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). We illustrate the clinical variability associated with decreased PRS-1 activity, ranging from mild isolated hearing loss to severe encephalopathy. One of the variants we identified has already been reported with a phenotype...

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PMID: 32781272
DOI: 10.1016/j.ejmg.2020.104033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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