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- Title
EP18.39: Novel pathogenic variant in thyroid hormone receptor interactor 11 gene associated with skeletal dysplasia.
- Authors
Toka, I.; Golbasi, H.; Ozdemir, T.; Cakir, Z.; Gercik, I.; Ucar, I.; Can, S. Tuncer; Torun, R.; Saglam, C.; Ozer, M.; Ekin, A.
- Abstract
This article discusses a novel pathogenic variant in the thyroid hormone receptor interactor 11 (TRIP11) gene that is associated with skeletal dysplasia. The TRIP11 gene encodes a protein essential for the function of the Golgi apparatus. Null mutations in TRIP11 can disrupt Golgi function and cause achondrogenesis type 1A (ACG1A). The article presents a previously unidentified mutation in the TRIP11 gene, which was found in a female fetus with various fetal anomalies. The variant was evaluated as "likely pathogenic" and the parents decided to terminate the pregnancy. The postnatal consequences of this mutation were not presented.
- Subjects
THYROID hormone receptors; SKELETAL dysplasia; FETAL abnormalities; GOLGI apparatus; GENETIC variation; THYROID hormone regulation
- Publication
Ultrasound in Obstetrics & Gynecology, 2024, Vol 64, p292
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.28774