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Article

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Pediatric research - 1 Jul 2015

Gandía Marta, Fernández-Toral Joaquín, Solanellas Juan, Domínguez-Ruiz María, Gómez-Rosas Elena, Del Castillo Francisco J, Villamar Manuela, Moreno-Pelayo Miguel A, Del Castillo Ignacio

Abstract excerpt

BACKGROUND: PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis. Different missense mutations in PRPS1 cause a variety of disorders that include PRS-I superactivity, nonsyndromic sensorineural hearing impairment, Charcot-Marie-Tooth disease, and Arts syndrome. It has been proposed that each mutation would result in a specific phenotype, depending on...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Source

Identifiers

PMID: 25785835
DOI: 10.1038/pr.2015.56

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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