The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
This family-based association study supports the previous findings that SNP rs3795391 (A > G) of the S100A8 gene might contribute to AgP susceptibility. This is, to our knowledge, the first investigation about AgP using FBAT in genetic analysis.
In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leucine residue (c.50C>T, p.P17L, g.50C>T). To assess the potential effects of this novel mutation, we utilized various bioinformatics analysis programs. The results indicate that the mutation likely affects protein cleavage/trafficking. We also analyzed previously reported mutations of DSPP. In summary, our finding supports that the genomic sequence that corresponds to the P17 residue of DSPP is a mutational hotspot and P17 may be critical for the function of DSPP.
Cementogenic activity was inhibited in OCCM-30 cells under static mechanical force, a process that was partially mediated by the decrease of Piezo1. This study provides a new viewpoint of the pathogenesis mechanism of orthodontically induced root resorption and repair.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is the most common congenital craniofacial malformation, and its harmful influence on affected individuals is apparent. Despite many studies, the causative genes and their mechanisms are not completely clear. We recruited a Han Chinese NSCLP family and explored the causative variant in this pedigree. We performed whole-exome sequencing on two patients. Bioinformatics screening and analysis were used to identify the mutation. We also performed species conservation analysis, mutation function predictions, and homology protein modelling to evaluate the influence of the mutation. We identified a rare mutation in interferon regulatory factor 6 (IRF6) (c.26G>A; p.Arg9Gln) as a candidate of causative mutation. This mutation was predicted to be deleterious. The codon is conserved in many species. The residue change caused by this mutation would affect the structure of IRF6 to a degree. Our study suggested that the rare IRF6 variant is probably the pathogenic mutation in this family. Our result adds evidence that IRF6 variants play a role in the aetiology of orofacial clefts.
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