Objective:To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness.Methods:Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites.Results:Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene, which was not detected in her parents or healthy controls.Conclusion:The heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.

Objective: To investigate the effects of sex-detemining region Y box9 (SOX9) expression levels on the proliferation, migration and metastasis in oral squamous cell carcinoma (OSCC). Methods: A total of 74 OSCC pathological specimens were collected from Shanghai OSCC Tissue and Biological Informations Bank, and clinicopathological information of these specimens were collected. Immunohistochemistry assay was used to examine the expression levels of SOX9 in OSCC and to analyze their relationship with clinicopathological features. Cell counting kit-8 assay and cloning formation was used to observe the relationship between the expression levels of SOX9 and the proliferation of OSCC. Transwell experiment and scratch test were used to detect the difference of the ability of OSCC in cell lines with different expression levels of SOX9. Results: The risk of lymph node metastasis in patients with high expression of SOX9 was significantly increased (P=0.010). In the Transwell experiment, the number of HN6 cells (671.0±57.4, P=0.000) migrated to the lower chamber more than that of CAL27 cells (172.0±13.9). In the scratch experiment, HN6 cells [0 h: (93.7±2.1) μm; 6 h: (56.7±2.5) μm; 12 h: (29.7±3.1) μm] migrated faster than CAL27 [0 h: (93.7±1.5) μm; 6 h: (78.0±2.0) μm; 12 h: (42.0±3.0) μm](P<0.05). The migration ability of the cell line (HN6) with high-expression of SOX9 was significantly higher than that in cell line (CAL27) with low-expression SOX9 (P<0.05). The expression levels of SOX9 in OSCC were no significant on cell proliferation (P>0.05). Conclusions High expression of SOX9 can promote the migration and lymph node metastasis of OSCC. SOX9 is a candidate gene target for the diagnosis and intervention of lymph node metastasis in OSCC.

Abdomen/diagnostic imaging* ; Artificial Intelligence ; Body Composition ; Magnetic Resonance Imaging ; Practice Guidelines as Topic