{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T19:04:00Z","timestamp":1781636640457,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,29]],"date-time":"2024-12-29T00:00:00Z","timestamp":1735430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"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>Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the <jats:italic>BRPF1<\/jats:italic> gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed <jats:italic>BRPF1<\/jats:italic> variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge. New phenotypic features identified include palpebral oedema, laterally elongated eyebrows, low hanging columella and hypertrichosis. Neuropsychological assessment reveals a predominance of mild to moderate ID, with cognitive profiles showing variability in verbal and visual processing. Structural abnormalities such as agenesis of the corpus callosum and ocular defects were noted, consistent with previous studies but with some differences. Familial analysis revealed variability in clinical expression. Our findings highlight the diverse clinical manifestations of <jats:italic>BRPF1<\/jats:italic>\u2010related disorders and suggest that comprehensive ophthalmological evaluation is essential for the management of these patients.<\/jats:p>","DOI":"10.1111\/cge.14688","type":"journal-article","created":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T01:27:03Z","timestamp":1735522023000},"page":"527-540","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The Phenotypic and Genotypic Spectrum of <i>BRPF1<\/i>\u2010Related Disorder: 29 New Patients and Literature Review"],"prefix":"10.1111","volume":"107","author":[{"given":"Cindy","family":"Colson","sequence":"first","affiliation":[{"name":"Univ. Lille, CHU Lille, ULR7364 \u2013 RADEME \u2013 Maladies RAres du DEveloppement embryonnaire et du M\u00e9tabolisme CRMR D\u00e9ficiences Intellectuelles de Causes Rares  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Tessarech","sequence":"additional","affiliation":[{"name":"Univ. Lille, CHU Lille, ULR7364 \u2013 RADEME \u2013 Maladies RAres du DEveloppement embryonnaire et du M\u00e9tabolisme CRMR D\u00e9ficiences Intellectuelles de Causes Rares  Lille France"},{"name":"CHU Angers Service de G\u00e9n\u00e9tique M\u00e9dicale  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-1431","authenticated-orcid":false,"given":"Elise","family":"Boucher\u2010Brischoux","sequence":"additional","affiliation":[{"name":"CHU Besan\u00e7on Centre de G\u00e9n\u00e9tique Humaine  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boute\u2010Benejean","sequence":"additional","affiliation":[{"name":"Univ. 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