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Objectives: Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11., Materials and Methods: We sequenced these five genes in 1255 multi-ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in silico predictive tools., Results: Ninteen total variants of interest were found, with variant types including stop-gain, missense, synonymous, intronic, and splice-site variants. Of these, 3 novel missense variants were found, one in SHH, one in RORA, and one in GDF11., Conclusion: This study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations., (© 2021 Wiley Periodicals LLC.)

Aim: To obtain a consensus on the domains of cariology for undergraduates in dental schools in the Caribbean., Materials and Methods: Dental school deans from the Dominican Republic (DR) and Puerto Rico (PR) were invited to participate. Afterwards, 24 cariology faculty members from the dental schools in the DR received a 40-h workshop on the current understanding of dental caries. Then, representatives from participating dental schools in the DR and PR were divided into six groups and tasked with exploring the cariology domains described in the European and Colombian consensus. For each domain, the competencies in what the dental student, upon graduation, would have to (1) be proficient in, (2) have knowledge of, (3) and be familiar with were described. Two cariology consensus meetings to work on the domains and suggest changes for the Caribbean region were done, and representatives from the DR and PR agreed on a cariology consensus. For the second stage, Caribbean English-speaking countries were invited to participate in the consensus. Meetings were held with representatives from dental schools in Trinidad and Tobago (TT) and Jamaica (J) to include their suggestions on each consensus domain., Results: A total of 15 dental schools (DR = 12; PR = 1; TT = 1; and J = 1) participated; they agreed on a new consensus considering the realities of the Caribbean participating countries., Conclusion: A cariology consensus for undergraduates was achieved for 15 dental schools in the Caribbean region. This accomplishment will promote a shift for the Caribbean dental schools' graduates towards a current understanding of dental caries., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA-binding (exon 3, 4) or protein-binding domains (exon 7-9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico., Methods: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants., Results: Twenty-one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7-9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein-binding domain (exon 7-9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*)., Conclusion: Mutations in the protein and DNA-binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

More than 51 million U.S. civilian noninstitutionalized residents have some form of long-lasting disability, including almost 1 million residents of Puerto Rico. The goal of this report is to review available data in an effort to stimulate recognition of the oral health needs of Puerto Rican residents with disabilities. The authors conducted a review using a series of U.S. Census Bureau reports to develop comparative relationships between Puerto Rican residents, the total U.S. population and the total U.S. Hispanic population. The review compared the proportion of these groups with disabilities, the proportion of the population who live below the poverty threshold, and oral health status. The review of available government and private agency data for the general population indicates that the percentage of Puerto Rican residents with disabilities is greater than the percentage of the total U.S. population and the total U.S. Hispanic population. In addition, compared to the total U.S. population, a greater percentage of total U.S. Hispanic children is living in poverty, has unmet dental needs, is uninsured for health services, and has not visited dentists for extended periods. Particularly limited information is available regarding the oral health needs and services for Puerto Rican residents with disabilities. It is essential for future government and private agency surveys and reports to emphasize the economic status of the Puerto Rican population, recognize the distribution of particular disabilities among the various racial/ethnic populations, and increase general attention to the oral health of the residents of Puerto Rico with specific concerns regarding individuals with disabilities.