Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism
TUBB1 variants confer genetic susceptibility to TD but not DH. The pathogenic variant in TUBB1 was identified in 1.38% (4/289) of our Chinese TD patient cohort, and burden test analysis revealed an association between TUBB1 variants and TD. Functional experimental results indicated that the c.952C>T mutant dominantly affects gene expression and proliferation of thyroid cells.
Authors
- Fengqi Wang (ORCID: https://orcid.org/0000-0003-2457-1222)
- Fang Wang (ORCID: https://orcid.org/0000-0002-6674-5537)
- Miaomiao Li (ORCID: https://orcid.org/0000-0003-1290-7120)
- Yangang Wang (ORCID: https://orcid.org/0000-0001-6597-420X)
- Shiguo Liu (ORCID: https://orcid.org/0000-0001-6794-8611)
- Chunhui Sun
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
Publication Details
- Journal
- Endokrynologia Polska
- Published
- 2025-02-26
- DOI
- https://doi.org/10.5603/ep.101416
- Citations
- 1
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.29
Funders
- National Natural Science Foundation of China