{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:46Z","timestamp":1786976806774,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T00:00:00Z","timestamp":1755129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Phosphoribosyl pyrophosphate synthetase (PRS) deficiency, an X\u2010linked condition caused by loss\u2010of\u2010function variants in\n                    <jats:italic>PRPS1<\/jats:italic>\n                    , manifests as a phenotypic continuum encompassing three previously distinct disorders: Arts syndrome, Charcot\u2013Marie\u2013Tooth neuropathy X type 5 (CMTX5), and X\u2010linked nonsyndromic sensorineural hearing loss (DFNX1). Males are typically more severely affected, while females with the same variant often present with milder forms. We report two unrelated female patients with progressive sensorineural hearing loss and very early\u2010onset retinal degeneration, at 12 and 13 months, respectively, and a pathogenic\n                    <jats:italic>PRPS1<\/jats:italic>\n                    c.640C&gt;T p.(Arg214Trp) variant. Notably, these cases show retinal involvement earlier than previously reported, expanding the clinical spectrum of PRS deficiency. This report contributes to the growing understanding of the phenotypic variability and complexity of this condition, particularly regarding early ocular manifestations.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64227","type":"journal-article","created":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T09:04:17Z","timestamp":1755162257000},"page":"192-198","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With\n                    <scp>PRS<\/scp>\n                    Deficiency"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1390-0334","authenticated-orcid":false,"given":"David","family":"Zocche","sequence":"first","affiliation":[{"name":"North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust  London UK"},{"name":"Institute of Ophthalmology, University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alpana M.","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"Paediatric Audiology, Hertfordshire Community NHS Trust  Hertfordshire UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Henderson","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health  London UK"},{"name":"NIHR Biomedical Research Centre, Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Clement","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital for Children  London UK"},{"name":"NIHR UCLH\u2010BRC Hearing Health Theme  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Ibitoye","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010014\u20100190\u20109"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010021\u201002303\u20101"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/520706"},{"issue":"8","key":"e_1_2_10_5_1","first-page":"1243","article-title":"Mutations in the X\u2010Linked Gene PRPS1 Cause Retinal Degeneration in Females","volume":"58","author":"Fiorentino A.","year":"2017","journal-title":"Investigative Ophthalmology & Visual 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