A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations
Abstract
:1. Introduction
2. Material and Methods
Case Description
3. Results
4. Discussion
Phenotypic Manifestations and Ophthalmologic Complications
5. Genetic Insights and Variability
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Reference | Variants | Type of Mutation | Exon | Spontaneous Blebs | Lens Subluxation |
---|---|---|---|---|---|
Abarca Barriga 2018 [5] | c.171G>A p.W57* | Nonsense | Exon 2 | + | + |
Jones 2022 [15] | c.1497_1500delGGCA p. Lys499Asnfs*12 | Nonsense | Exon 19 | − | − |
Jones 2022 [15] | c.1497_1500delGGCA p. Lys499Asnfs*12 | Nonsense | Exon 19 | − | + |
Jones 2022 [15] | c.1626G>A, p. Glu542= | Synonym | Exon 20 | − | + |
Musleh 2023 [14] | c.1695 C>A p. Tyr565* | Nonsense | Exon 21 | − | + |
Kulkarni 2019 [7] | c.1695C>A p.Tyr565* | Nonsense | Exon 21 | − | + |
Kulkarni 2019 [7] | c.1695C>A p.Tyr565* | Nonsense | Exon 21 | − | + |
Senthill 2020 [11] | c.1853 T>A p.Leu618Gln | Missense | Exon 21 | + | + |
Senthill 2020 [11] | c.1853 T>A p.Leu618Gln | Missense | Exon 21 | + | + |
Patel 2014 [3] | c.1852_1856delinsGGG p. Ser589Glufs*18 | Nonsense | Exon 22 | + | + |
Chandran 2019 [6] | c.1869_1873 del GGACT p.Asp624Glufs*13 | Nonsense | Exon 22 | + | + |
Lei 2020 [16] | c.1910delA/ p. Asn637Metfs*15 | Nonsense | Exon 23 | − | + |
Kulkarni 2019 [7] | c.2127-2delA p.? | Splincing | Exon 24 | − | + |
Shanmugam 2020 [8] | c. 2062 C>G p.Arg688Gln | Missense | Exon 24 | + | − |
Jones 2022 [15] | c.2062C>T p. Arg688* | Nonsense | Exon 24 | + | + |
Haddad 2001 [2] ^ | c.2203C>T p. Arg735Trp. | Missense | Exon 25 | − | − |
Mansour 2013 [17] ^ | c.2203C>T p. Arg735Trp. | Missense | Exon 25 | + | + |
Senthill 2020 [11] | c.2246 G>A p.Ser749Asn | Missense | Exon 25 | + | + |
Senthill 2020 [11] | c.2204 G>A p.Arg735Glu | Missense | Exon 25 | + | + |
Van Hoorde 2021 [10] | c.2181_2183dup p. Val727_Trp728ins* | Nonsense | Exon 25 | − | + |
Van Hoorde 2021 [10] | c.2181_2183dup, p.Val727_Trp728ins* | Nonsense | Exon 25 | + | + |
Jones 2022 [15] | c.2181_2183dupATG p. Trp728* | Nonsense | Exon 25 | − | + |
Jones 2022 [15] | c.2181_2183dupATG p. Trp728* | Nonsense | Exon 25 | − | + |
Jones 2022 [15] | c.2181_2183dupATG p. Trp728* | Nonsense | Exon 25 | − | + |
Lima 2023 [13] | c.1765-1G>A p. ? | Splincing | Intron 21 | + | − |
Kulkarni 2019 [7] | c.2127-2delA p.? | Splincing | Intron 24 | − | + |
Musleh 2023 [14] | c. 2127-2delA | Splincing | Intron 24 | − | + |
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Ibarra-Ramírez, M.; Campos-Acevedo, L.D.; Valenzuela-Lopez, A.; López-Villanueva, L.A.; Fernandez-de-Luna, M.; Mohamed-Noriega, J. A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations. Genes 2024, 15, 1120. https://doi.org/10.3390/genes15091120
Ibarra-Ramírez M, Campos-Acevedo LD, Valenzuela-Lopez A, López-Villanueva LA, Fernandez-de-Luna M, Mohamed-Noriega J. A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations. Genes. 2024; 15(9):1120. https://doi.org/10.3390/genes15091120
Chicago/Turabian StyleIbarra-Ramírez, Marisol, Luis D. Campos-Acevedo, Aristides Valenzuela-Lopez, Luis Arturo López-Villanueva, Marissa Fernandez-de-Luna, and Jibran Mohamed-Noriega. 2024. "A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations" Genes 15, no. 9: 1120. https://doi.org/10.3390/genes15091120