A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome / 医学前沿

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients' hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

Research progress in the diet of diabetes / 中国糖尿病杂志

It is widely accepted that diabetes is intimately linked to diet. The latest researches showed that diet-microbiota interactions acted as moderators of human diabetes. Gluten-free diet and hydrolyzed protein decreased the incidence of type 1 diabetes mellitus (T1DM)by the mechanism of changes in gut microbiota and immune micro-environment. Consuming more dairy products decreased the incidence of type 2 diabetes mellitus (T2DM). High fat diet can induce insulin resistance (IR),thus increasing the incidence of T2DM. Parental dietary affected on offspring diabetes by the epigenetic mechanism. Low carbohydrate diet,dietary fiber and legumes were effective to the treatment of diabetes. Prediction of postprandial glucose level and treatment based on gut microbiota contributed to control the glucose of diabetic patients. An in-depth understanding of these mechanisms provides new ideas for the individualized and precise treatment of diabetes.