{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T22:36:23Z","timestamp":1786228583351,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T00:00:00Z","timestamp":1735171200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in <jats:italic>PAICS<\/jats:italic> gene, is an inborn error of <jats:italic>de novo<\/jats:italic> purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.(Lys53Arg) missense variant. We report the third case of PAICS deficiency in a 7\u2009years old boy, presenting with polymalformative syndrome, but normal neurodevelopment. We report malformations not previously described in PAICS deficiency, notably congenital cardiopathy, and support the consistency of skeletal and oesophageal defects. Genome Sequencing identified the homozygous pathogenic variant p.(Lys53Arg), suggesting a recurrent variant in <jats:italic>PAICS<\/jats:italic>. A probable recurrence of PAICS deficiency occurred in a sibling, with a similar polymalformative syndrome antenatally diagnosed, but could not be confirmed molecularly. We further delineate the phenotype of PAICS deficiency and provide new insights concerning prognosis, notably in terms of neurodevelopment.<\/jats:p>","DOI":"10.1111\/cge.14681","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T01:49:07Z","timestamp":1735264147000},"page":"564-569","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of the Third Patient With <scp>PAICS<\/scp> Deficiency Harbouring the p.(<scp>Lys53Arg<\/scp>) Recurrent Variant, Extending the Phenotype Diversity"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0919-7207","authenticated-orcid":false,"given":"Simon","family":"Boussion","sequence":"first","affiliation":[{"name":"Univ. Lille, CHU Lille, ULR 7364 \u2013 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Aumar","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology Hepatology and Nutrition, U1286 \u2013 INFINITE Univ. Lille, Inserm, CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Hutt","sequence":"additional","affiliation":[{"name":"Department of Thoracic Imaging Univ. Lille, CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Fron","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Fayoux","sequence":"additional","affiliation":[{"name":"Department of Paediatric Otolaryngology Head and Neck Surgery, ULR 2694 \u2013 METRICS Univ. 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