Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS).@*METHODS@#A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members.@*RESULTS@#The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.

Role of Regional Network Management System in Disability Prevention for Newborn High-risk Infants / 中国康复理论与实践

Objective:To explore the feasibility of establishing a regional network management system to prevent and control the disability in high-risk infants. Methods:From July, 2015 to June, 2016, 1252 type B high-risk infants who born alive and registered in Lianyungang were divided into control group and experimental group by receiving network management system or not. The network high-risk infants management system was used to monitor the growth, diagnosis and early intervention of high-risk infants in the experimental group, while the control group was managed in the conventional way. A comprehensive physical examination and systematic assessment of 940 high-risk infants finally were conducted after two years. Their parents' compliance, developmental state, degree of dysplasia and function of dysplastic child were compared. Results:The compliance of parents was higher in the experimental group than in the control group (χ2 = 44.161,P < 0.001), as well as the outcome when the infants were two years old (χ2 = 204.340,P < 0.001). The younger they were found deviated and intervened, the better the outcome was (χ2 = 42.038,P < 0.001), and the less degree of dysplasia when they were two years old (χ2 = 10.508,P < 0.01). The deviation/abnormality condition was less in the experimental group than in the control group (χ2 = 17.446,P < 0.01). The development of functional area was better in the experimental group than in the control group (|t| > 2.206,P < 0.05), expect body structure (P > 0.05), in the infants with developmental deviation/abnormality. Conclusion:The establishment of network management system for high-risk infants can significantly improve the management compliance of parents and outcome of development of high-risk infants, to prevent disability.