Exploration of Genetic Variants of Non-syndromic Cleft Lip with or without Palate and Underlying Mechanisms

Non-syndromic cleft lip with/without cleft palate (NSCL/P) is one of the most common birth defects in humans with an overall prevalence of one per 1000 live births. Due to genetic and environmental influences, the fusion of the lips or palate may be interrupted at any stage and cause a cleft. Over decades, dozens of susceptible genes and loci have been identified using multiple genetic approaches. Our group has collected samples of NSCL/P patients since 2008 and established the biobank. We discovered numerous susceptible loci related to the occurrence of NSCL/P in the Chinese population, such as 16p13.3, 1q32.2, 10q25.3 and 17p13.1. In addition, we performed functional studies on related loci and genes by using molecular biology, cell biology, animal models and other methods to provide a basis for the construction of the NSCL/P genetic map in the Chinese population and help to implement individualised prophylaxis and treatment. Future efforts will focus on identifying functional variants, investigating pathways and other interactions, and including phenotypic and ethnic diversity in research. Keywords: cleft lip, cleft palate, craniofacial abnormalities, genetics