Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population
Authors' conclusion
Our study revealed multiple novel pathogenic variants in TPO gene in Indian patients, thereby expanding the genotype spectrum. Functional studies helped us to reveal the pathogenicity of the missense variants.
Study context
- Population
- Indian patients with thyroid dyshormonogenesis (TDH) with thyroid peroxidase (TPO) gene mutations9 unrelated families
- Participants
- 12 patients
- Outcome
- TPO variants identified by exome sequencing and their functional effects
Methodological detailsexome sequencing, Sanger sequencing, computational analysis, in vitro functional studies
- Exome sequencing
- Sanger sequencing
- Computational analysis
- In vitro functional studies
Main finding
As reported in the abstract
Biallelic disease-causing TPO variants identified
9 variants in 12 patients from 9 unrelated Indian families
Novel variants
8 of 9
Original publication
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population. Horm Res Paediatr. Published 18 July 2024. doi:10.
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