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Article

Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency.

American journal of medical genetics. Part A - 1 Jan 2026

Zocche David, Moosajee Mariya, Kulkarni Alpana M, Henderson Robert H, Clement Emma, Ibitoye Rita

Abstract excerpt

Phosphoribosyl pyrophosphate synthetase (PRS) deficiency, an X-linked condition caused by loss-of-function variants in PRPS1, manifests as a phenotypic continuum encompassing three previously distinct disorders: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). Males are typically more severely affected, while females with the same...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40808665
DOI: 10.1002/ajmg.a.64227

Genes

PRPS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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