In addition, cardiovascular disease are more prevalent in women with TS, including congenital cardiac abnormalities, aortic dilation and dissection, hypertension and ischemic heart disease ( 2). The clinical signs of TS include short stature, gonadal dysgenesis, lymphedema webbed neck and other more than 400 types of dysmorphic features. Since initially described by Henry Turner in 1938, TS was gradually recognized as a syndrome characterized by the complete absence or partial loss of an X chromosome in phenotypic females. Turner syndrome (TS) is a common genetic condition caused by abnormal sex chromosomes that affects 1 in 2500 female live births ( 1). However, more experiments are needed to further explore the relationships between these genes and TS in the future. In addition, several genes of interest with possible roles in the pathogenesis of TS were identified as being associated with the hematologic/immune system or metabolism.Ĭonclusion: This discovery-driven analysis may be a useful method for elucidating novel mechanisms underlying TS. CD99 and CSF2RA are involved in the hematologic/immune system, MYL9 and MYLPF are related to the circulatory system, and IGFBP2 is related to skeletal abnormalities.
#TURNER SYNDROME PDF INFO MANUAL#
The PPI network analysis, construction of key modules and manual screening of tissue-specific gene expression resulted in the identification of the following five genes of interest: CD99, CSF2RA, MYL9, MYLPF, and IGFBP2. The tissue-specific gene expression analysis of the DEGs revealed that the system with the most highly enriched tissue-specific gene expression was the hematologic/immune system, followed by the skin/skeletal muscle and neurologic systems. Results: In total, 25 upregulated and 60 downregulated genes were identified in the differential expression analysis. Then, tissue-specific gene expression, functional enrichment, and protein-protein interaction (PPI) network analyses were performed, and the key modules were identified. The relevant data on 26 subjects with TS (45,XO) and 10 subjects with the normal karyotype (46,XX) was investigated.
Methods: In our study, we used the online Gene Expression Omnibus (GEO) microarray expression profiling dataset GSE46687 to identify differentially expressed genes (DEGs) between monosomy X TS patients and normal female individuals. The etiology of TS is complex, and the mechanisms driving its pathogenesis remain unclear.
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