ABSTRACT
Objective To summarize the clinical and the molecular genetic characteristics of type DYT11 dystonia by analyzing the clinical data and pathogenic gene mutation of type DYT11 dystonia of a myoclonus-dystonia syndrome (MDS) family.Methods A MDS family enrolled in the General Hospital of the People's Liberation Army Rocket Force in January 2018 was retrospectively analyzed.The clinical data of 11 affected family members were collected and genetic testing of four affected family members (including the proband) of the MDS family was conducted using a panel of dystonia-associated genes.Results The affected family members showed great differences in clinical characteristics and obvious clinical heterogeneity.Four affected family members had myoclonus and dystonia,two affected family members only had myoclonus and five affected family members only had dystonia.The results of genetic testing showed that the proband,his father and his grandfather had a mutation (c.835_839delACAAA) in SGCE gene,which is autosomal dominant and belongs to type DYT11 dystonia.Conclusions MDS shows clinical heterogeneity.Gene screening is of great importance for the diagnosis and treatment of dystonia with myoclonus.
ABSTRACT
Objective To investigate the relationship between X-ray injury cross-complementing protein 1 (XRCC1) gene polymorphism and prognosis in patients with triple-negative breast cancer (TNBC). Methods Patients with primary triple-negative breast cancer (TNBC) diagnosed in the Ninth People′s Hospital, Shanghai Jiaotong University School of Medicine from January 2013 to January 2015 were selected. Patients were selected for genotyping (XRCC1 gene Arg280His, Arg399Gln and Arg194Trp) and divided into survival group and death group according to the prognosis of patients. Logistic regression was used to analyze the relationship between XRCC1 genotype and prognosis. Results A total of 130 patients were enrolled in the study, with an average age of (50.4 ± 6.3) years. The mean follow-up time was (45 ± 13) months, including 62 patients with breast cancer-related deaths and 68 patients with survival. The patients in death group was older than those in the survival group [(52.6 ± 6.7) years vs. (48.3 ± 5.2) years, P < 0.01), and and the lymph node metastasis rate was higher [88.7%(55/62) vs.73.5%(50/68), P＝0.028]. The frequency of XRCC1 gene Arg399Gln genotype in the survival and death group was GG: 61.8% vs. 38.7%; GA: 32.4% vs. 41.5%; AA: 5.9% vs. 19.4%, P＝0.011.There were also statistical differences between the two groups in the frequency of allele, and the frequency of A allele was significantly higher in the death group than in the survival group (40.4% vs. 22.0%, P<0.01). For the additive model of the Arg399Gln polymorphism A allele, for each additional copy of the A allele, the risk was 1.443 times that before the increase (95% CI 1.174-1.793, P<0.01). After adjusting for age and lymph node metastasis, the A allele still significantly increased the risk of death ( OR＝1.533, 95% CI 1.254-1.903, P < 0.01). Conclusions The XRCC1 gene Arg399Gln polymorphism is associated with the prognosis of TNBC, and patients with the A allele have a poor prognosis.