CLINICAL AND GENETIC APPROACHES TO NON-SYNDROMIC CLEFT LIP AND/OR PALATE AND VAN DER WOUDE SYNDROME FROM THE EXPERIENCE WITH A DOMINICAN FAMILY

Objectives: To describe clinical and genetic characteristics of non-syndromic cleft lip and/or palate and Van der Woude Syndrome, based on the research experience with a Dominican family affected with cleft lip and/or palate with autosomal dominant inheritance.
Methods: A Dominican family with cleft lip and/or palate with autosomal dominant inheritance is analyzed molecularly and clinically, by means of clinical evaluation, genealogy analysis according to Bennett RL. et al., and, exome and complete genome analysis in trio (laboratory process performed by Centogen).
Results: A Dominican family with four generations affected by cleft lip and/or palate is described. Exome and trio whole genome analysis was performed on the proband, female with left cleft lip and palate and lower lip pit, her carrier mother with palatal torus and healthy father, under differential diagnosis of non-syndromic cleft lip and/or palate/Vander Woude Syndrome. Whole exome analysis did not yield positive results, whole genome analysis indicated loss of 1 copy of 10,349 kb with deletion of exons 1 - 3 of the IRF6 gene.
Conclusions: This is the first report of a copy number variant with deletion of exons 1-3 of the IRF6 gene, variants in IRF6 have been associated with non-syndromic cleft lip and/or palate and Van der Woude syndrome (differential diagnoses in the family).