Does exome sequencing reveal the likely involvement of SOX10 in uveal melanoma?
Somatic mutations in GNAQ and SF3B1 genes were probable drivers of UM in the Indian patient; these were also reported earlier in some White patients. In addition, a frameshift deletion of 20 base pairs has been identified in SOX10 in the UM patient. Somatic mutations in SOX10, a transcription factor, which acts upstream of microphthalmia-associated transcription factor and synergizes with microphthalmia-associated transcription factor, was identified in some melanoma cell lines. The transcription factor SOX10 was found to have an essential role in melanocyte development and pigmentation. Our finding of the frameshift deletion (p.H387fs) in exon 4 of SOX10 in UM provides an important insight and complements earlier findings of mutations in GNAQ and SF3B1 on the genomic basis of UM.
Our study indicated that perceived diabetes empowerment is a predictor of self-care behavior and HbA1c in Chinese patients with type 2 diabetes. Therefore, interventions to enhance and promote patient empowerment should be essential components of diabetes education programs to improve self-care behavior and glycemic control.