Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design
2.2. Clinical Evaluation
2.3. Genomic DNA Preparation
2.4. Library Preparation and Clinical Exome Sequencing
2.5. Bioinformatics Analysis
2.6. Sanger Sequencing
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patient | Gender | Age at Time of Diagnosis (months) | Bilateral Cataract Phenotype | Other Ocular Abnormalities |
---|---|---|---|---|
I:3 | M | 36 | Unknown | Microphthalmia |
II:2 | M | 18 | Unknown | Microphthalmia, aqueous misdirection |
II:3 | F | 3 | Anterior polar | Microphthalmia, aphakic glaucoma |
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Zin, O.A.; Neves, L.M.; Motta, F.L.; Horovitz, D.D.G.; Guida, L.; Gomes, L.H.F.; Cunha, D.P.; Rodrigues, A.P.S.; Zin, A.A.; Sallum, J.M.F.; et al. Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia. Genes 2021, 12, 1069. https://doi.org/10.3390/genes12071069
Zin OA, Neves LM, Motta FL, Horovitz DDG, Guida L, Gomes LHF, Cunha DP, Rodrigues APS, Zin AA, Sallum JMF, et al. Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia. Genes. 2021; 12(7):1069. https://doi.org/10.3390/genes12071069
Chicago/Turabian StyleZin, Olivia A., Luiza M. Neves, Fabiana L. Motta, Dafne D. G. Horovitz, Leticia Guida, Leonardo H. F. Gomes, Daniela P. Cunha, Ana Paula S. Rodrigues, Andrea A. Zin, Juliana M. F. Sallum, and et al. 2021. "Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia" Genes 12, no. 7: 1069. https://doi.org/10.3390/genes12071069