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Open AccessArticle

Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients

1
Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium
2
Center for Human Genetics, CLAD Nord de France, CHU Amiens-Picardie, 80054 Amiens, France
3
Université Picardie Jules Verne, EA CHIMERE, EA 7516, 80054 Amiens, France
4
Facing Faces Institute, 80054 Amiens, France
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Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium
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Department of Maxillofacial Surgery and Stomatology, Centre de Compétence Fentes et Malformations Faciales (MAFACE), CHU Amiens-Picardie, 80054 Amiens, France
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Department of Pediatrics, Cliniques Universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium
8
Centre Labiopalatin, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium
*
Author to whom correspondence should be addressed.
Genes 2019, 10(10), 833; https://doi.org/10.3390/genes10100833
Received: 6 September 2019 / Revised: 14 October 2019 / Accepted: 19 October 2019 / Published: 22 October 2019
(This article belongs to the Special Issue Molecular Genetics of Facial Traits and Malformations)
Oral clefts are composed of cleft of the lip, cleft of the lip and palate, or cleft of the palate, and they are associated with a wide range of expression and severity. When cleft of the palate is associated with cleft of the lip with preservation of the primary palate, it defines an atypical phenotype called discontinuous cleft. Although this phenotype may represent 5% of clefts of the lip and/or palate (CLP), it is rarely specifically referred to and its pathophysiology is unknown. We conducted whole exome sequencing (WES) and apply a candidate gene approach to non-syndromic discontinuous CLP individuals in order to identify genes and deleterious variants that could underlie this phenotype. We discovered loss-of-function variants in two out of the seven individuals, implicating FGFR1 and DLG1 genes, which represents almost one third of this cohort. Whole exome sequencing of clinically well-defined subgroups of CLP, such as discontinuous cleft, is a relevant approach to study CLP etiopathogenesis. It could facilitate more accurate clinical, epidemiological and fundamental research, ultimately resulting in better diagnosis and care of CLP patients. Non-syndromic discontinuous cleft lip and palate seems to have a strong genetic basis. View Full-Text
Keywords: discontinuous cleft; FGFR1; DLG1; WES (whole exome sequencing) discontinuous cleft; FGFR1; DLG1; WES (whole exome sequencing)
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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.

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