A case of mental retardation caused by a frameshift variant of SYNGAP1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent.@*CONCLUSION@#The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.

Clinicopathological Characteristics and Prognosis of Nasopharyngeal Lymphoepithelial Carcinoma: A Population-Based Retrospective Study.

BACKGROUND The aim of this study was to establish a predictive model for prognostic factors and overall survival (OS) in nasopharyngeal lymphoepithelial carcinoma (NLEC) patients. MATERIAL AND METHODS The data of 538 NLEC patients diagnosed between 1988 and 2015 were extracted from the Surveillance, Epidemiology, and End Results database. Patients who were diagnosed from 1988 to 1999 were included in the validation cohort, and those diagnosed from 2000 to 2015 in the primary cohort. Least absolute shrinkage and selection operator and multivariate Cox regression analyses were performed. The discrimination and calibration capabilities of the predictive models were evaluated using the receiver operating characteristic (ROC) curve and calibration plot, respectively. RESULTS Radiotherapy (P<0.0001), early-stage cancer based on the American Joint Committee on Cancer (AJCC) staging system (P<0.0001), younger age (P=0.0005) were associated with better OS rates. In the primary cohort, the areas under the ROC curves (AUC) of the nomogram for predicting 1-, 10-, and 15-year OS were 0.749, 0.754, and 0.81, respectively. Meanwhile, in the validation cohort, the AUC of the nomogram for predicting 1-, 10-, and 15-year OS were 0.692, 0.692, and 0.682, respectively. Furthermore, the calibration plot exhibited optimal agreements between the nomogram-predicted and actual 1-, 10-, and 15-year OS in both cohorts. The 1-, 10-, and 15-year OS rates were 93.6%, 62.7%, and 49.9%, respectively. CONCLUSIONS Age, early-stage cancer based on the AJCC staging system, radiotherapy, and gender can be used to predict OS in nasopharyngeal lymphoepithelial carcinoma patients.