PuSH - Publication Server of Helmholtz Zentrum München: PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

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Mercati, O.* ; Abi Warde, M.T.* ; Lina-Granade, G.* ; Rio, M.* ; Heide, S.* ; de Lonlay, P.* ; Ceballos-Picot, I.* ; Robert, M.P.* ; Couloigner, V.* ; Beltrand, J.* ; Boddaert, N.* ; Rodriguez, D.* ; Rubinato, E.* ; Lapierre, J.M.* ; Merlette, C.* ; Sanquer, S.* ; Rötig, A.* ; Prokisch, H. ; Lyonnet, S.* ; Loundon, N.* ; Kaplan, J.* ; Bonnefont, J.P.* ; Munnich, A.* ; Besmond, C.* ; Jonard, L.* ; Marlin, S.*

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

Eur. J. Med. Genet. 63:104033 (2020)

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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.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Prps1 ; Hearing Loss ; Deafness ; Arts Syndrome ; Intellectual Deficiency; Phosphoribosylpyrophosphate Synthetase Superactivity; Exome Sequencing Reveals; Point Mutations; Gene; Spectrum; Deafness

ISSN (print) / ISBN 1769-7212

e-ISSN 1729-7212

Journal European Journal of Medical Genetics

Quellenangaben Volume: 63, Issue: 11, Article Number: 104033

Publisher Elsevier

Publishing Place Radarweg 29, 1043 Nx Amsterdam, Netherlands

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)

Grants Fondation des Maladies Rares, Paris, France
association S'entendre
MSD-France
Fondation Bettencourt-Schueller
GIS-Institut des Maladies Rares