Retrospective Study of the Relationship between Variable Benign Epilepsy of Childhood with Centrotemporal Spikes and the Changes of Zinc, MRS, VEEG, and IQ Test.

Benign epilepsy in childhood with centrotemporal spikes (VBECT) has been associated with electroencephalography (EEG), but the relationship of VBECT with zinc, magnetic resonance spectroscopy (MRS), and intelligence quotient (IQ) tests is unclear. The aim of this study was to investigate the association of VBECT with zinc, MRS, EEG, and IQ tests. In this retrospective study, we selected 58 children with variable benign epilepsy with centrotemporal spikes as the experimental group. A total of 120 children with typical benign childhood epilepsy with centrotemporal spikes were selected as the control group. The zinc, MRS, EEG, and IQ test results of 178 children were measured and analyzed. The results showed that the zinc, MRS, and IQ test results of the patients in the experimental group decreased significantly. The spinal slow wave results in the experimental group showed a significant upward trend. Linear correlation analysis of zinc with MRS, EEG, and IQ tests showed that 13 pairs of indicators were significantly negatively correlated. Our results suggest the importance of zinc, MRS, EEG, and IQ during VBECT.

PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.

The present study aimed to identify the disease­causing gene of a four­generation Chinese family affected with congenital posterior subcapsular cataracts (CPSC), to additionally investigate the frequency of paired like homeodomain 3 (PITX3) mutations in Chinese patients with autosomal dominant congenital cataract (ADCC) and to analyze the pathogenesis of the mutations identified in the present study. Whole exome sequencing (WES) was utilized to identify the genetic cause of CPSC in the four­generation family. Sanger sequencing was performed to verify the WES results and to screen for mutations of the PITX3 gene in probands of an additional 194 Chinese ADCC families. Co­segregation analysis was performed in the family members with available DNA. Subcellular localization analyses and transactivation assays were performed for the PITX3 mutations identified. From the WES data, the c.608delC (p.A203GfsX106) mutation of PITX3 was identified in the four­generation family with CPSC. A second PITX3 mutation c.640_656del (p.A214RfsX42) was detected in two of the additional 194 ADCC families and one of these two families exhibited incomplete penetrance. Functional studies indicated that these 2 PITX3 mutant proteins retained a nuclear localization pattern, but resulted in decreased transactivation activity, similar to other previously identified PITX3 mutations. In the present study, 2 different mutations (p.A203GfsX106 and p.A214RfsX42) in PITX3 were identified as the causative defect in a four­generation family with CPSC and two ADCC families, respectively. The prevalence of PITX3 gene­associated cataract was 1.54% (3/195) in the Chinese congenital cataract (CC) family cohort. In vitro functional analyses of these 2 PITX3 mutations were performed, in order to enhance understanding of the pathogenesis of CC caused by PITX3 mutations.