Abstract
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.
Highlights
Cleft of the lip and/or palate (CLP) are among the most common birth defects, with an approximate incidence of 1/700 live births and with a wide variability of expression depending on ethnicity, gender and cleft type
Clinical data and samples from patients with non-syndromic CLP (nsCLP) and their family members were collected in collaboration with the Centre Labiopalatin, Cliniques Universitaires St Luc, Brussels, Belgium and Amiens-Picardie Hospital, France
Eight patients who met the clinical diagnosis of non-syndromic discontinuous clefts of the lip and/or palate (CLP) were selected and included in the study
Summary
Cleft of the lip and/or palate (CLP) are among the most common birth defects, with an approximate incidence of 1/700 live births and with a wide variability of expression depending on ethnicity, gender and cleft type. CLPs are not associated with an elevated rate of mortality in developed. Genes 2019, 10, x FOR PEER REVIEW. Genes 2019, 10, 833 in developed countries, they represent a significant lifelong morbidity. Themultidisciplinary latter is not associated with and care. Syndromic CLPs, which represent classified as syndromic non-syndromic (isolated)
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