Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling
Authors' conclusion
This study demonstrated that CNTN6 is a novel causative gene for CH through the mediation of thyroid hormone biosynthesis via Notch signaling, which provides new insights into the genetic background and mechanisms involved in CH and thyroid dyshormonogenesis.
Study context
- Population
- Patients with congenital hypothyroidism (CH) in China
- Participants
- 599 patients
- Outcome
- Identification of novel candidate causative genes for CH
Methodological detailsnext-generation sequencing, in vitro (HEK293T and FTC-133 cell lines), in vivo mouse model
- Next-generation sequencing
- In vitro (HEK293T and FTC-133 cell lines)
- In vivo mouse model
Main finding
As reported in the abstract
Pathogenic CNTN6 variants identified in patients with CH
3 variants in 2 patients
Original publication
Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling. Thyroid. Published 6 January 2024. doi:10.
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