Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review
8
Issued Date
2025-01-01
Resource Type
ISSN
14345161
eISSN
1435232X
Scopus ID
2-s2.0-105011359857
Journal Title
Journal of Human Genetics
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Human Genetics (2025)
Suggested Citation
Eiumtrakul W., Tim-Aroon T., Wuthisiri W., Sujirakul T., Chansakul T., Khongkraparn A., Noojarern S., Wattanasirichaigoon D., Wongkittichote P. Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review. Journal of Human Genetics (2025). doi:10.1038/s10038-025-01371-9 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/111487
Title
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review
Author's Affiliation
Corresponding Author(s)
Other Contributor(s)
Abstract
Genetic defects in primary cilia-related genes are associated with a heterogeneous group of disorders known as ciliopathies. TBC1D32-related ciliopathy presents with a broad phenotypic spectrum, ranging from isolated retinal diseases to severe multisystemic involvement, including fetal demise. We report two unrelated patients with retinal disease and hypopituitarism, with one also exhibiting facial dysmorphism, developmental delay, and unilateral oculomotor nerve palsy. Whole genome sequencing identified biallelic TBC1D32 variants in both patients, including two splice-site variants. RNA analysis revealed exon skipping, leading to frameshift and premature protein truncation. A review of previously reported cases highlighted facial dysmorphism, retinal disease, and hypopituitarism as major clinical features of TBC1D32-related ciliopathy. Additionally, we propose oculomotor nerve palsy as an extended clinical feature of this disorder. This study expands the clinical and molecular spectrum of TBC1D32-related ciliopathy.