ABSTRACT
Objective:To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome (PSS).Methods:A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital, Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations, biochemical tests and gene tests.Meanwhile, studies were retrieved from the China National Knowledge Internet database, Wanfang database, and PubMed database from the establishment of the database to December 2021 by taking " Potocki-Shaffer syndrome" " EXT2 gene" " AlX4 gene" and " PHF21A gene" as key words.Besides, genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized. Results:The patient was 5 months and 21 days old, male, who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation, overgrowth, concealed penis, hearing loss, and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11: 44069455-48188946 region, including the deletions of 3 autosomal dominant genes: EXT2, ALX4, and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected, involving this boy and other 35 patients.In these patients, 14 cases had point mutations, and 22 cases had large deletions. PHF21A gene variation was detected in 23 cases (dysgnosia in 22 cases, dyskinesia in 21 cases, language development delay in 18 cases). EXT2 gene variation was observed in 22 cases (exostoses in 13 cases). ALX4 gene variation was found in 19 cases (bilateral parietal foramina in 15 cases). Of 36 cases, 27 cases had craniofacial anomalies. Conclusions:The main clinical symptoms of PSS are language and motor developmental delay, intellectual disability, exostoses, bilateral parietal foramina, and craniofacial anomalies, which are closely related to 3 autosomal dominant genes ALX4, EXT2 and PHF21A.Genetic testing facilitates the clinical diagnosis of PSS, and the mutation types are dominated by point mutations and large deletions.
ABSTRACT
Objective@#To compare the expressions of ALX gene family members (ALX1, ALX3, ALX4) in human embryonic stem cells (hESCs) and their differentiated neural crest cells (NCCs), as well as human mesenchymal stem cells (MSCs) and peripheral neurons derived from NCCs. The result provided a research foundation for understanding the expressions of ALX gene family in the process of NCCs differentiation.@*Methods@#The characteristics of hESCs, NCCs, MSCs and peripheral neurons were identified by RT-PCR, immunofluorescence staining and flow cytometry analysis. The expressions of ALX1, ALX3 and ALX4 were quantified by Real-time PCR.@*Results@#The expressions of ALX1 were significantly lower in MSCs than in NCCs (P < 0.05). However, the expression of ALX3 was significantly higher in MSCs than in hESCs, NCCs, peripheral neurons and osteoblasts (P < 0.05). The expressions of ALX4 were higher in MSCs, peripheral neurons and osteoblasts.@*Conclusions@#The expression profiles of different ALX genes in stem cells at different development stages are different, suggesting the regulation of ALX genes expressions is different in diverse cells.