OBJECTIVE: To identify the genetic characteristics in patients with nonsydromic hearing loss (NSHL) in Hunan province, to determine the prevalence and spectrum of mutations in GJB2 gene, and to explore the pathogenic mechanism. METHODS: A total of 140 sporadic patients with NSHL were enrolled after clinical examination. Molecular studies were performed by amplifing the coding region of GJB2 gene, purifying the PCR products, and sequencing directly. Sequences were analysed by DNAStar software to determine GJB2 mutations in the patients. Special method was designed to confirm the unreported mutation. RESULTS: We detected GJB2 mutation in 56 out of the 140 patients (40%, 56/140). Both of the 2 alleles were mutated in 29 patients and 1 allele in the other 27 patients, and the rate of allele mutation was 30.4%(85/280). Ten variations were detected, including 7 mutations and 3 polymorphisms. The deaf-causing mutations were nonsense mutation c.139G>T; frameshift mutation c.235delC and c.176-191del16; and missense mutation c.109G>A, c.344T>G, c.550C>T and c.571T>C. The unreported missense mutation was c.344T>G. The c.235delC mutation was the most prevalent mutation found in the 27 patients (19.3%, 27/140). The frequency of c.109G>A mutation was next to c.235delC found in 25 patients (17.9%, 25/140). CONCLUSION GJB2 mutation is a major cause for NSHL. The most common-spot in Chinese patients with NSHL is c.235delC. The unreported missense mutation is c.344T>G.
Base Sequence ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Gene Deletion ; Hearing Loss ; genetics ; Humans ; Molecular Sequence Data ; Mutation, Missense ; Point Mutation ; genetics

ObjectiveTo explore the impact of autonomic nerve function on motor function in patients with post-stroke depression (PSD) from the perspective of regional homogeneity (ReHo). MethodsFrom January to December, 2020, a total of 60 inpatients and outpatients with cerebral infarction in the Affiliated Brain Hospital of Nanjing Medical University were divided into control group (n = 30) and PSD group (n = 30). Two groups were assessed using Fugl-Meyer Assessment (FMA), modified Barthel Index (MBI) and Hamilton Depression Scale (HAMD). Heart rate variability (HRV) was measured. Ten patients in each group were selected randomly to undergo resting state functional magnetic resonance imaging (rs-fMRI) to calculate ReHo. ResultsAll HRV indices were lower in PSD group than in the control group (|t| > 2.092, P < 0.05). In PSD group, FMA and MBI scores showed positive correlations with 24-hour standard deviation of normal-to-normal R-R intervals (SDNN), the root mean square of successive differences between normal heartbeats over 24 hours (RMSSD), the percentage of differences between adjacent normal R-R intervals over 24 hours that were greater than 50 ms (PNN50), total power (TP), very low frequency power (VLF) and low frequency power (LF) (r > 0.394, P < 0.05), and showed negative correlations with HAMD scores (|r| > 0.919, P < 0.001). HAMD scores in PSD group were negatively correlated with SDNN, RMSSD, PNN50, TP and VLF (|r| > 0.769, P < 0.001). Compared with the control group, the ReHo increased in PSD group in the right rectus gyrus (142 voxels, t = 6.575), the left medial and paracingulate gyri (204 voxels, t = 4.925) (GRF correction, P_-Voxel < 0.005，P_-Cluster < 0.05); and reduced in the right cerebellum (191 voxels, t = -6.487), the left middle temporal gyrus (140 voxels, t = -5.516), and the left precentral gyrus (119 voxels, t = -4.764) (GRF correction, P_-Voxel < 0.005，P_-Cluster < 0.05) in PSD group. ConclusionAutonomic nerve function is related to motor dysfunction in patients with PSD. The modulation of emotional, cognitive and motor brain regions by the autonomic nervous system may play a role in influencing the motor function in patients with PSD.