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

ObjectiveWe present a rare untypical Loeys-Dietz syndrome 1 case in prenatal setting and report a novel mutation in the TGFBR1 gene.Case reportA 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.ConclusionIn 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.