A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1

Taiwan J Obstet Gynecol. 2022 Jan;61(1):127-128. doi: 10.1016/j.tjog.2021.10.004.


Objective: We present a rare untypical Loeys-Dietz syndrome 1 case in prenatal setting and report a novel mutation in the TGFBR1 gene.

Case report: A pregnant woman came for medical attention due to the fetal ultrasound anomaly. The fetus was found to have short long bones. Trio-based WES was applied to the family. A novel de novo nonsense mutation c.1237C > T was detected in the TGFBR1 gene. A diagnosis of Loeys-Dietz syndrome 1 (LDS1) was plausible, but the fetus did not demonstrate the characteristic phenotype of the syndrome.

Conclusion: In prenatal setting, fetal phenotypes are difficult to be fully observed, putting stress on the utility of molecular techniques. LDS1 in fetuses could present untypical features such as skeletal dysplasia.

Keywords: Loeys-Dietz syndrome 1; Prenatal diagnosis; TGFBR1; Whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Codon, Nonsense*
  • Female
  • Fetus / diagnostic imaging
  • Humans
  • Loeys-Dietz Syndrome / diagnostic imaging
  • Loeys-Dietz Syndrome / genetics*
  • Mutation*
  • Prenatal Diagnosis
  • Receptor, Transforming Growth Factor-beta Type I / genetics*


  • Codon, Nonsense
  • Receptor, Transforming Growth Factor-beta Type I
  • TGFBR1 protein, human