Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism
Authors' conclusion
According to our study, the prevalence of TPO variants among Chinese patients with CH was 13.1%. Five novel variants led to impaired TPO function by altering its structure or by affecting its expression or cellular localization, which should result in impaired thyroid hormone synthesis.
Study context
- Population
- Chinese patients with congenital hypothyroidism (CH)
- Participants
- 328 patients
- Outcome
- TPO variants
Methodological detailswhole-exome sequencing, in vitro transfection assays, in silico analysis
- Whole-exome sequencing
- In vitro transfection assays
- In silico analysis
Main finding
As reported in the abstract
- Thyroid peroxidase (TPO) variants identified, incl. six novel
- 19
- Patients carrying TPO variants
- 43
- Patients with biallelic TPO variants
- 18 (5.5%)
- Variants with impaired TPO activity in vitro
- 17
- Residual TPO enzyme activity threshold that may differentiate CH severity
- 15%
Original publication
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism. Horm Res Paediatr. Published 13 September 2023. doi:10.
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