Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the diagnosis, treatment and genetic analysis of an infant with Schaaf-Yang syndrome (SYS).@*METHODS@#An infant suspected for SYS at the Hunan Provincial Children's Hospital on June 10, 2022 was subjected to trio-whole exome sequencing, and Sanger sequencing was used to verify the candidate variant. Structure of the wild-type and mutant proteins was constructed to analyze the potential hazard.@*RESULTS@#The infant was found to harbor a heterozygous frameshifting variant of c.1908delG (p.R637Gfs*65) of the MAGEL2 gene, which was found in neither of his parents. The variant has not been recorded by the public databases, and no relevant literature was retrieved. As the result of the variant, the MAGEL2 protein only retained part of its proline domain, which may lead to destruction and/or down-regulation of its function.@*CONCLUSION@#The c.1908delG (p.R637Gfs*65) variant of the MAGEL2 gene probably underlay the pathogenesis in this child. Combined with his clinical characteristics, the child was diagnosed with SYS. Above finding has also enriched the mutational spectrum of the MAGEL2 gene.

Association between single nucleotide polymorphisms of apolipoprotein E gene and epileptic drug resistance / 中华神经科杂志

Objective To investigate the possible association between two single nucleotide polymorphisms (SNPs) loci of apolipoprotein E (ApoE) gene and epileptic drug resistance in a central Chinese Han population.Methods A case control study was performed in 364 epileptic patients.According to the criteria of drug resistant epilepsy proposed by International League Against Epilepsy in 2010,143 patients were classified into drug resistant group and 221 patients into drug responsive group.The peripheral venous blood of each patient was collected for DNA extraction after clinical evaluation.The candidate ApoE SNPs loci,including rs7412 and rs769450,were genotyped by BeadChip Scanning and GoldenGate Assay following the Illumina protocols.The differences in allelic and genotypic frequency were compared between groups.Linkage disequilibrium was calculated through SHEsis platform.Results There was no significant difference for genotype or allele of rs7412 between groups.The GG genotype (OR =2.038,95％ CI 1.196-3.475,P=0.009) and G allele (OR =1.618,95％CI 1.193-2.193,P=0.002) of rs7412 were significantly more abundant in the drug resistant group.As for idiopathic epileptic patients,the GG genotype (OR =2.110,95％ CI 1.189-3.744,P =0.011) and G allele (OR =1.641,95％ CI 1.187-2.270,P =0.003) of rs7412 were still significantly more abundant in the drug resistant group.There was no linkage disequilibrium between the two loci with D' value of 0.072.Conclusion The GG genotype and G allele of ApoE rs769450 may be associated with epileptic drug resistance in a central Chinese Han population.