A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1
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 applie...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Elsevier,
2022-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. |
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| Item Description: | 1028-4559 10.1016/j.tjog.2021.10.004 |