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Article

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

European journal of human genetics : EJHG - 1 Mar 2015

Al-Maawali Almundher, Dupuis Lucie, Blaser Susan, Heon Elise, Tarnopolsky Mark, Al-Murshedi Fathiya, Marshall Christian R, Paton Tara, Scherer Stephen W, Roelofsen Jeroen, van Kuilenburg André B P, Mendoza-Londono Roberto

Abstract excerpt

PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing...

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Identifiers

PMID: 24961627
DOI: 10.1038/ejhg.2014.112
PMCID: PMC4326708

Genes

PRPS1

Variants

Provenance

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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