Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous aetiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Mega-analysis of the pooled individual data from the GWAS and replication study confirmed that common DLG1 variants are associated with the risk of nsCL/P. Two single nucleotide polymorphisms (SNPs), rs338217 and rs7649443, were statistically significant even at the genome-wide level (P = 9.70E-10 and P = 8.96E-09, respectively). Three other SNPs, rs9826379, rs6805920 and rs6583202, reached a suggestive genome-wide significance threshold (P < 1.00E-05). The location of the strongest individual SNP in the intronic sequence of the gene encoding DLG1 antisense RNA suggests that the true causal variant implicated in the risk of nsCL/P may affect the DLG1 gene expression level rather than structure of the encoded protein. In conclusion, we identified a novel cleft-susceptibility locus at chromosome 3q29 with a DLG1 as a novel candidate gene for this common craniofacial anomaly.
Auto-aggression can be defined as all actions that aim to inflict mental or physical harm to oneself. It can be caused by a dysfunction of the self-preservation instinct, which can manifest in life-threatening self-mutilation tendencies. Auto-aggression can also be one of the symptoms of psychiatric or emotional dysfunctions such as borderline personality disorder, psychopathy or schizophrenia. A dental appointment, being usually a source of great stress, can induce certain auto-aggressive behaviors as well as dental examination can show some lesions or abnormal changes of anatomical structures in the oral cavity which should be thoroughly examined and treated multidisciplinary according to patient’s behavior.
Two cases of Sporadic Burkitt’s lymphoma in children aged 11 and 8 years with primary symptoms in the oral cavity are reported. The first symptoms of the disease appeared in the oral cavity and were initially misdiagnosed as an inflammatory condition in one case and incidental findings not associated with the primary reason for visiting the dentist’s office in the second case. Biopsies of the lesions revealed the actual cause of the observed changes and contributed to the prompt initiation of polychemotherapy treatment. A review of current literature presents the known symptoms of Burkitt’s Lymphoma in the oral cavity and the available diagnostic methods. The role of the primary care physicians—the pedodontist and paediatrician—in the diagnostic and therapeutic process is discussed.
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