Clinical features and genetic analysis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genetic basis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene.@*METHODS@#Clinical data of the children were collected.Trio-whole exome sequencing was carried out for the children and their parents. Pathogenicity of the variants was analyzed through bioinformatics prediction.@*RESULTS@#All of the children had various degrees of mental retardation in conjunct with language deficit, global developmental delay, abnormal behavior and peculiar facial features, among whom two also developed autism spectrum disorders. The results of genetic testing showed that all three children harbored de novo variants of the FOXP1 gene, namely c.613_c.614delCTinsTA, c.1248delC and c.1393A>G. Two of these were frameshift variants and one was missense variant, which were all rated as pathogenic based on the guidelines of the American College of Medical Genetics (ACMG). Database search suggested that c.613_c.614delCTinsTA and c.1248delC were unreported previously.@*CONCLUSION@#For the three children from unrelated families with mental retardation in conjunct with language deficit, global growth delay, abnormal behavior and peculiar facial features, the c.613_ c. 614delCTinsTA, c.1248delC and c.1393A>G variants of the FOXP1 gene may be the pathogenic factors. Above cases have further expanded the genotype-phenotype profile of FOXP1 deficiency syndrome.

Progress of the relationship between Henoch-Sch?nlein purpura nephritis and IgA nephropathy in children / 国际儿科学杂志

Scholars have focused on the relationship between Henoch-Sch?nlein purpura nephritis and IgA nephropathy in children, when they gradually recognizes the similarities and differences between Henoch-Sch?nlein purpura nephritis and IgA nephropathy in their incentives, genetic factors, renal immunopathology, therapy and so on,with aberrantly glycosylated IgA1 involved in the pathogenesis of Henoch-Sch?nlein purpura nephritis and IgA nephropathy. This paper will review their differences and similarities,along with their relation, according to the research progress.