Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
Authors' conclusion
Our study greatly expanded the variant spectrum of the DUOXA2 gene. Pedigree and in vitro functional studies improved the accuracy of genetic counseling. The genotype-phenotype relationship of DUOXA2 broadened the understanding of the CH phenotype spectrum.
Study context
- Population
- Chinese patients with congenital hypothyroidism (CH)
- Participants
- 599 patients
- Comparison
- DUOXA2-mutated vs nonmutated CH patients
- Outcome
- DUOXA2 variants detected
Methodological detailstargeted next-generation sequencing or whole exome sequencing, in vitro functional analysis
- Targeted next-generation sequencing or whole exome sequencing
- In vitro functional analysis
Main finding
As reported in the abstract
Variants detected in DUOXA2 (6 novel)
13
Variant carrying rate
6.7%
40/599
Variants disrupting DUOX2 enzyme activity, impairing H2O2 production
10
Further findings
Oligogenic mutation patterns within the DUOX system
- Oligogenic mutation patterns within the DUOX system were prevalent among Chinese CH patients
Genotype-phenotype relationship
- DUOXA2-mutated cases were milder and more likely to have normal thyroid size than nonmutated cases
Original publication
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism. Eur J Endocrinol. Published 13 June 2025. doi:10.
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