ABSTRACT
OBJECTIVE@#To explore the genetic etiology for a child with profound intellectual disabilities and obvious behavioral abnormalities.@*METHODS@#A male child who had presented at the Zhongnan Hospital of Wuhan University on December 2, 2020 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. Short tandem repeat (STR) analysis was carried out to determine its parental origin. The splicing variant was also validated in vitro with a minigene assay.@*RESULTS@#WES results revealed that the child had harbored a novel splicing variant of c.176-2A>G in the PAK3 gene, which was inherited from his mother. The results of minigene assay have confirmed aberrant splicing of exon 2. According to the guidelines from the American College of Medical Genetics and Genomics, it was classified as a pathogenic variant (PVS1+PM2_Supporting+PP3).@*CONCLUSION@#The novel splicing variant c.176-2A>G of the PAK3 gene probably underlay the disorder in this child. Above finding has expanded the variation spectrum of the PAK3 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.
Subject(s)
Child , Female , Humans , Male , Pregnancy , Exons , Intellectual Disability/genetics , Mothers , Mutation , p21-Activated Kinases/genetics , Parents , RNA SplicingABSTRACT
Objective:To observe the effects of lactoferrin(LF)on the proliferation,migration and osteogenic differentiation of human periodontal ligament cells(HPDLCs)in vitro.Methods:HPDLCs were cultured and identified.The proliferation and migration of HP-DLCs cultured with 0,10 and 20 μg/ml lactoferrin respectively were tested by MTT assay,Transwell assay and scratch test.The os-teogenic differentiation of the cells was evaluated using alizarin red staining and real-time PCR.Results:Lactoferrin at 10 and 20μg/ml increased the proliferation(P <0.05),increased the quantities of mineralized nodules and the expression of alkaline phospha-tase(ALP),osteocalcin(OCN)and osteopontin(OPN)(P <0.05).Conclusion:Lactoferrin promotes the proliferation,migration and osteogenic differentiation of HPDLCs.