AUTHOR=Zhou Yuan-Yuan , Du Yu-Fang , Lu Qing , Zhai Xiu-Zhang , Shi Ming-Fang , Chen Dan-Yun , Liu Sun-Rong , Zhong Ying 

TITLE=Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.853907

DOI=10.3389/fgene.2022.853907

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Methods:</bold> 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.</p><p><bold>Results:</bold> A likely pathogenic mutation [NM_130468.3 c.958C&gt;T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A&gt;G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (<italic>CHST14</italic>) gene by whole-exome sequencing and validated by Sanger sequencing.</p><p><bold>Conclusion:</bold> The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.</p>