| Autor: |
Yuan-Yuan Zhou, Yu-Fang Du, Qing Lu, Xiu-Zhang Zhai, Ming-Fang Shi, Dan-Yun Chen, Sun-Rong Liu, Ying Zhong |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Frontiers in Genetics, Vol 13 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1664-8021 |
| DOI: |
10.3389/fgene.2022.853907 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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