Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous <i>ASPH</i> variant associated with a heterozygous <i>FBN1</i> variant

Lima, Felipe L.; Cronemberger, Sebastião; Albuquerque, Anna L. B.; Barbosa, Luciana F.; Cunha, Francine Rubião da; Veloso, Artur William Caldeira Abreu; Diniz-Filho, Alberto; Friedman, Eitan; Marco, Luiz

doi:10.1080/13816810.2023.2206888

Ophthalmic Genetics

2023

DOI: 10.1080/13816810.2023.2206888

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Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant

Felipe L. Lima

Sebastião Cronemberger

Anna L. B. Albuquerque

et al.

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2024

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A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations

Ibarra-Ramírez,

Campos-Acevedo,

Valenzuela-Lopez

et al. 2024

Genes

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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>A, p.Trp631*) and a novel likely pathogenic variant (deletion of exons 20–21), 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.

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A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations

Ibarra-Ramírez,

Campos-Acevedo,

Valenzuela-Lopez

et al. 2024

Genes

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show abstract

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Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant

Cited by 1 publication

References 29 publications

A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations

A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations

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