Genetics of cleft lip and/or cleft palate: Association with other common anomalies |
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| Affiliation: | 1. Center for Health Promotion and Disease Prevention, University of North Carolina at Chapel Hill, 1700 Martin Luther King Jr Boulevard, Chapel Hill, NC, USA;2. Birth Defects Monitoring Program, Division of Public Health, North Carolina Department of Health and Human Services, State Center for Health Statistics, 222 North Dawson Street, Cotton Building, Raleigh, NC 27603, USA;3. UNC Center for AIDS Research, UNC School of Dentistry, UNC School of Medicine, University of North Carolina at Chapel Hill, 104 South Building, CB# 3000, Chapel Hill, NC 27599-3000, USA;4. Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, CB# 7487, UNC Campus, Chapel Hill, NC 27599-7487, USA;1. Departamento de Ciencia y Tecnología Aplicadas, Escuela Universitaria de Ingeniería Técnica Agrícola, Universidad Politécnica de Madrid, 28040 Madrid, Spain;2. Departamento de Matemática Aplicada, Escuela Técnica Superior de Ingenieros Agrónomos, Universidad Politécnica de Madrid, 28040 Madrid, Spain;3. Estación Enológica de Haro, Bretón de los Herreros 4, 26200 Haro, Spain;4. Estación de Viticultura y Enología de Galicia, Ponte San Clodio, 32427 Leiro, Spain;5. Departamento de Química Agrícola, Universidad Autónoma de Madrid, 28049 Madrid, Spain;1. College of Stomatology, Chongqing Medical University, Chongqing, China;2. Chongqing Key Laboratory for Oral Diseases and Biomedical Sciences, College of Stomatology, Chongqing Medical University, Chongqing, China;3. Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education, College of Stomatology, Chongqing Medical University, Chongqing, China |
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| Abstract: | ![]()
Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most common birth defects but we still have difficulty explaining why the majority of cases occur. In general, sporadic cases with no family history may be more related to environmental risks, while the presence of one or more affected relative in the same family strongly suggests that genetic factors are the main contributor. Orofacial clefts can occur in conjunction with other defects (syndromic CL/P) or as an isolated defect (non-syndromic – NSCL/P). CL/P syndromes have been studied intensively and appear to have a stronger genetic aetiology. Here we report on the relationship between syndromic and NSCL/P as a phenotypic spectrum resulting from coding or non-coding mutations respectively. We review certain abnormalities that are most frequently associated with CL/P, including dental, heart, brain, skin and certain types of cancer and examine some of the genes that are involved. We include the outcome of recent NSCL/P GWAS data and we will discuss how the genes at these loci might contribute towards clarifying the genetics of CL/P. |
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| Keywords: | Cleft lip Cleft palate Cleft lip and/or cleft palate Syndrome Non-syndromic Genetics Cisregulatory elements |
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