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

Yang Yang; Wang Yan; Mao Aifen; Wang Hao

doi:10.1016/j.tjog.2021.10.004

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.

Authors

Yang Yang¹, Wang Yan¹, Mao Aifen¹, Wang Hao²

Affiliations

¹ Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.
² Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. Electronic address: loster2010@outlook.com.

PMID: 35181021
DOI: 10.1016/j.tjog.2021.10.004

Abstract

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*

Substances

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