Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

Introduction: Neurodevelopmental disorders with language impairment and behavioral abnormalities (NEDLIB) are a disease caused by heterozygous variants in the glutamate ionotropic receptor AMPA type subunit 2 (GRIA2) gene, which manifest as impaired mental development or developmental delay, behavioral abnormalities including autistic characteristics, and language disorders. Currently, only a few mutations in the GRIA2 gene have been discovered.Methods: A GRIA2 variation was detected in a patient by whole-exome sequencing, and the site was validated by Sanger sequencing from the family.Results: We report a Chinese case of NEDLIB in a girl with language impairment and developmental delay through whole-exome sequencing (WES). Genetic analysis showed that there was a de novo missense mutation, c.1934T > G (p.Leu645Arg), in the GRIA2 gene (NM_001083619.1), which has never been reported before.Conclusion: Our case shows the potential diagnostic role of WES in NEDLIB, expands the GRIA2 gene mutation spectrum, and further deepens the understanding of NEDLIB. Deepening the study of the genetic and clinical heterogeneity, treatment, and prognosis of the disease is still our future challenge and focus.

The Role of Lymphocyte-To-Monocyte Ratio In Predicting The Severe Post-Calcific Stenotic Aortic Dilatation In A Chinese Case-Control Study

Background: Calcific aortic valve stenosis (CAVS) represents a serious public health threat to elderly patients. Post-calcific stenotic aortic dilatation, a common feature in CAVS patients, might progress into aneurysm and even dissection, potentially lethal consequences of CAVS, and predicts a dismal prognosis. This study sought to testify the role of lymphocyte-to-monocyte ratio (LMR), an inflammatory biomarker, in predicting the severe post-calcific stenotic aortic dilatation in a Chinese case-control study.Materials and Methods: 208 consecutive patients with CAVS were recruited retrospectively in a Chinese case- control study, from July 1, 2015 to June 31, 2018. The LMR was statistically analyzed for its prognostic value in the severe post-calcific stenotic aortic dilatation.Results: The LMR was significantly reduced in patients with severe post-calcific stenotic aortic dilatation (2.72 vs. 3.53, p=0.002<0.05) compared to patients without severe post- calcific stenotic aortic dilatation. There was an inverse correlation observed between the maximal diameter of ascending aorta and the LMR in the overall patients (r=-0.217, p=0.002<0.05). For severe post-calcific stenotic aortic dilatation, the incidence of high- LMR group was statistically lower than that of low-LMR group (19.7% vs. 43.9%, p<0.001). And maximal diameter of ascending aorta was significantly reduced in the high-LMR group (4.35vs. 4.76, p=0.003<0.05) compared to low-LMR group. Additionally, the LMR was identified in the multivariate analysis as an independent predictor of severe post-calcific stenotic aortic dilatation (OR 0.743, 95% CI: [0.573- 0.964], p=0.025).Conclusions: This study provided the evidence of an inverse correlation between the severe post- calcific stenotic aortic dilatation and LMR. And the LMR is potentially applied as an independent predictor of severe post-calcific stenotic aortic dilatation.