Table1_Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.xlsx
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://figshare.com/articles/dataset/Table1_Case_Report_A_Novel_Mutation_Identified_in_CHST14_Gene_in_a_Fetus_With_Structural_Abnormalities_xlsx/19547890
下载链接
链接失效反馈官方服务：
资源简介：
Background: Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes.
Methods: We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys.
Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing.
Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.
创建时间：
2022-04-08
