OBJECTIVE: To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS). METHODS: Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression. RESULTS: The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant. CONCLUSION The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.
Codon, Nonsense ; Eyelashes ; abnormalities ; Female ; Forkhead Transcription Factors ; genetics ; metabolism ; Gene Expression ; Genetic Testing ; Genetic Variation ; Humans ; Lymphedema ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis

Objective To analyze the improved the effects of prevention and treatment by integrated tradition Chinese and Western medicine on TCM constitutions and relevant indexes of community diabetic patients; To provide a reference for the comprehensive prevention and treatment of community diabetes.Methods By using cluster sampling method, 700 patients with diabetes aged 45 to 65 in healthcare service center in Minhang District in Shanghai were chosen randomly and divided into intervention group and control group, with 350 cases in each group. The control group used information platform, and was treated with standardized management and treatment of diabetes. On the basis of the treatment of the control group, the intervention group was identified TCM constitutions once a month, developed personalized community diabetes prevention and treatment of TCM norms, and gave guidance and intervention for health preserving and disease prevention for a year. The TCM constitution improvement was observed. Diabetic symptoms grading scale and anxiety self-rating scale, depression self-rating scale were assessed, and the complications were observed.Results Before intervention: TCM constitution of yin-yang harmony (51.43％) > yin asthenia (18.29％) > qi asthenia (11.71％) > yang asthenia (9.71％) > damp-heat (1.57％). After intervention: TCM constitution of yin-yang harmony (63.71％) > yin asthenia (8.71％) > qi asthenia (6.57％), yang asthenia (6.29％) > damp-heat (1.71％). There was difference in constitutions of yin-yang harmony, yang asthenia, and damp-heat before and after and through intervention and group interaction (P<0.05). There was statistical significance in diabetes symptoms curative effect index between the two groups (P=0.021). There was statistical significance in ophthalmoscopy results before and after and through intervention and group interaction (P=0.002).Conclusion The prevention and treatment by intervention of integrated traditional Chinese and Western medicine can improve the TCM constitutions of diabetic patients in community and influence the symptoms of diabetes.