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

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 similar to our patient's, whereas the other three were unknown. The clinical and biochemical information we provide will hopefully contribute to gain insight into the correlation between genotype and phenotype of this rare condition, both in females and in males. Moreover, our observation of a new family in which hemizygous males display hearing loss without any neurological or ophthalmological symptoms prompts us to suggest analysing PRPS1 in cases of isolated hearing loss. Eventually, PRPS1 variants should be considered as a differential diagnosis of mitochondrial disorders. Copyright © 2020. Published by Elsevier Masson SAS.

Citation

Oriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, Marlène Rio, Solveig Heide, Pascale de Lonlay, Irène Ceballos-Picot, Matthieu P Robert, Vincent Couloigner, Jacques Beltrand, Nathalie Boddaert, Diana Rodriguez, Elisa Rubinato, Jean-Michel Lapierre, Christophe Merlette, Sylvia Sanquer, Agnès Rötig, Holger Prokisch, Stanislas Lyonnet, Natalie Loundon, Josseline Kaplan, Jean-Paul Bonnefont, Arnold Munnich, Claude Besmond, Laurence Jonard, Sandrine Marlin. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. European journal of medical genetics. 2020 Nov;63(11):104033

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PMID: 32781272

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