{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:57:00Z","timestamp":1780387020447,"version":"3.54.1"},"reference-count":20,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T00:00:00Z","timestamp":1724544000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universidad Autonoma de Nuevo Le\u00f3n"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Traboulsi syndrome is a rare genetic disorder characterized by facial dysmorphism, lens subluxation, anterior segment anomalies, and spontaneous filtering blebs. The syndrome is due to mutations in the ASPH gene, which plays a crucial role in the development and maintenance of the lens. This case report describes the clinical and genetic findings in a Mexican male with Traboulsi syndrome, highlighting the identification of a novel ASPH variant. A 21-year-old male presented with trauma to the right eye while playing soccer. He had a history of lens subluxation and dysmorphic facial features. Ophthalmic examination revealed right eye lens subluxation into the anterior chamber (with signs of a previous episode of acute angle closure) and left eye posterior and inferior lens subluxation with sectorial iris atrophy. Genetic analysis identified a pathogenic ASPH variant (NM_004318.3:c.1892G&gt;A, p.Trp631*) and a novel likely pathogenic variant (deletion of exons 20\u201321), confirming Traboulsi syndrome. This is the first instance of Traboulsi syndrome in the Mexican population. The absence of spontaneous filtering blebs in this patient supports previous reports of the wide phenotypic variability that could be related to the type of mutation. This novel ASPH variant expands the known genetic heterogeneity of Traboulsi syndrome.<\/jats:p>","DOI":"10.3390\/genes15091120","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T01:48:49Z","timestamp":1724636929000},"page":"1120","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype\u2013Phenotype Correlations"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-4532","authenticated-orcid":false,"given":"Marisol","family":"Ibarra-Ram\u00edrez","sequence":"first","affiliation":[{"name":"Department of Genetics, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis D.","family":"Campos-Acevedo","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aristides","family":"Valenzuela-Lopez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Arturo","family":"L\u00f3pez-Villanueva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marissa","family":"Fernandez-de-Luna","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4234-7083","authenticated-orcid":false,"given":"Jibran","family":"Mohamed-Noriega","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3109\/13816819509057858","article-title":"A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism","volume":"16","author":"Shawaf","year":"1995","journal-title":"Ophthalmic Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1156>3.0.CO;2-V","article-title":"Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance","volume":"99","author":"Haddad","year":"2001","journal-title":"Am. 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