Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patient Selection
2.2. Whole Exome Sequencing
3. Results
3.1. Patient F1-3
3.2. Patient F2-3
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Patient | Gender | CLP Familial History | Discontinuous CLP Description | Gene, Variant and Protein Change | |
---|---|---|---|---|---|
Cleft of the Primary Palate | Cleft of the Secondary Palate | ||||
1 | F | − | right labioalveolar | submucous | FGFR1, c.1809_1810insTC; p.Glu571Tyrfs*61 |
2 | M | − | left labioalveolar | submucous | DLG1, c.832C>T; p.Arg278* |
3 | M | − | right labioalveolar | submucous | |
4 | M | − | left labioalveolar | submucous | |
5 | M | − | right labial | soft and hard palate | |
6 | M | − | left labial | soft and hard palate | |
7 | M | + | left labial | submucous |
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Demeer, B.; Revencu, N.; Helaers, R.; Gbaguidi, C.; Dakpe, S.; François, G.; Devauchelle, B.; Bayet, B.; Vikkula, M. Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. Genes 2019, 10, 833. https://doi.org/10.3390/genes10100833
Demeer B, Revencu N, Helaers R, Gbaguidi C, Dakpe S, François G, Devauchelle B, Bayet B, Vikkula M. Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. Genes. 2019; 10(10):833. https://doi.org/10.3390/genes10100833
Chicago/Turabian StyleDemeer, Bénédicte, Nicole Revencu, Raphael Helaers, Cica Gbaguidi, Stéphanie Dakpe, Geneviève François, Bernard Devauchelle, Bénédicte Bayet, and Miikka Vikkula. 2019. "Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients" Genes 10, no. 10: 833. https://doi.org/10.3390/genes10100833