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Background: It was the aim of this study to investigate tooth agenesis patterns, which are expressed to different subphenotypes according to the TAC method in a spectrum of non-syndromic orofacial cleft patients. Methods: A total of 183 orofacial cleft patient records were assessed for tooth agenesis and TAC patterns. The association between TAC and sex, and cleft type was examined, and logistic regression models were additionally applied. Additionally, the distribution of missing teeth by cleft type and the tooth agenesis inter-quadrant association were examined. Results: The most frequent cleft type was CLPL (n = 72; 39.3%), while the maxillary left lateral incisor was the most frequently missing tooth that was strongly dependent on the cleft type (29.5%, p < 0.001). Of the 31 TAC patterns identified, four were the most prevalent and occurred in 80.8% of the sample, while 20 TAC patterns were unique. Cleft type contrary to sex (p = 0.405) was found to play a significant role in TAC distribution (p = 0.001). The logistic regression’s results suggested that overall, neither sex nor cleft type were associated with tooth agenesis. Prevalence of tooth agenesis in each quadrant clearly depended on cleft type; and there was a strong association found between tooth agenesis in different quadrants. Conclusions: Thirty-one different subphenotypes were identified in TAC patterns. The first four TAC patterns accounted for the 80.8% of the sample’s variability while twenty of the patterns were unique. A strong association was present between TAC pattern and cleft type. No association was found between the sex of the patient, tooth agenesis and TAC patterns. Tooth agenesis depended strongly on the cleft type, and the most frequently missing tooth was the maxillary left lateral incisor. The interquadrant association for tooth agenesis found suggests a genetic link in the etiology of clefts.

Non‑syndromic orofacial clefts (NSOC), which include cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO), are common congenital birth defects in humans. Accumulating evidence indicates that long non‑coding RNAs (lncRNAs) and microRNAs (miRNAs or miRs) play important roles in NSOC; however, the potential regulatory associations between them remain largely unknown. In this study, we performed next‑generation RNA sequencing (RNA‑seq) to identify transcriptome profiles, including mRNAs, lncRNAs and miRNAs, in patients with CL/P and CPO. A total of 36 lncRNAs, 1,341 mRNAs and 60 miRNAs were found to be differentially expressed in the CL/P group compared to the control group, and 57 lncRNAs, 1,255 mRNAs and 162 miRNAs were found to be differentially expressed in the CPO group compared to the control group. Subsequently, reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) was performed to validate the expression of selected lncRNAs, miRNAs and mRNAs. In addition, bioinformatics methods were employed to explore the potential functions of ncRNAs and to construct lncRNA‑miRNA‑mRNA regulatory networks. To the best of our knowledge, this is the first study to comprehensively analyze regulated non‑coding RNAs (ncRNAs) in CL/P and CPO, providing a novel perspective on the etiology of NSOC and laying the foundation for future research into the potential regulatory mechanisms of ncRNAs and mRNAs in NSOC.

Non-syndromic orofacial clefts (NSOFC), which include cleft lip and palate (CLP), cleft lip only (CLO), and cleft palate only (CPO), contains a range of disorders affecting the lips and oral cavity. No systematic review and meta-analysis has been carried out to synthesize the prevalence of NSOFC in Chinese perinatal infants. We aimed to quantify and understand the variation of prevalence national and regional levels. Four English databases and four Chinese databases were searched using a comprehensive search strategy from inception to April 2017. The random effect model was used for this meta-analysis. To determine the sources of heterogeneity, subgroup analyses and meta-regression were conducted based on different categories. The protocol has been pre-registered in the PROSPERO, number CRD42017062293. 110 studies, including 15,094,978 Chinese perinatal infants, were eligible for inclusion. The pooled prevalence rate for NSOFC was 1.67‰ (95% CI 1.53-1.82), varying with provinces. The pooled prevalence estimate was 0.56‰ (0.50-0.63) for CLO, 0.82‰ (0.73-0.90) for CLP, and 0.27‰ (0.24-0.30) for CPO. Significant associations were found between overall prevalence estimates and survey year and study region. The prevalence of NSOFC was severe in Chinese perinatal infants, varying with provinces. The results will serve as a baseline for future assessment of the overall effectiveness of NSOFC control, and will also support and inform health policy for planning and helping health debates.