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Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China
Yanling Gong1,2, Yinhong Zhang3, Fan Liu4
11. School of Medicine, Kunming University of Science and Technology, Kunming 650500, China.
Insights
Genetic mutations in DUOX2, TPO, and TSHR genes are common in children with permanent congenital hypothyroidism (CH) in Yunnan, China. Gene mutation type did not correlate with developmental outcomes in these CH patients.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Molecular Biology
Background:
- Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
- Permanent CH requires lifelong thyroid hormone replacement therapy.
- Understanding the genetic basis of CH is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the molecular and clinical characteristics of children with permanent CH in Yunnan, China.
- To identify common genetic mutations associated with CH in this population.
- To analyze the correlation between genotype and clinical phenotype, including developmental outcomes.
Main Methods:
- Retrospective analysis of clinical data from 40 children diagnosed with CH.
- Follow-up to 3 years of age with developmental and intelligence assessments (Gesell scores).
- Next-generation sequencing (NGS) of 27 known CH-associated genes to identify mutations.
Main Results:
- Pathogenic gene mutations were detected in 57.5% (23/40) of children.
- DUOX2, TPO, and TSHR gene mutations were the most frequent, accounting for 65.9%, 11.4%, and 9.1% of mutations, respectively.
- No significant difference in physical development or intelligence was observed between children with different DUOX2 mutation types; all patients required ongoing medication.
Conclusions:
- DUOX2, TPO, and TSHR pathogenic mutations are prevalent in children with permanent CH in Yunnan.
- No correlation was found between specific gene mutation types and the prognosis or developmental status of children with CH.
- Genetic screening is valuable for diagnosing CH and understanding its molecular basis.
Objective:
To investigate molecular and clinical characteristics of children with permanent congenital hypothyroidism (CH) in Yunnan, China.
Methods:
The clinical data of 40 children with CH diagnosed and treated in the First People's Hospital of Yunnan Province during January 2016 and January 2019 were retrospectively analyzed. All children were followed up to 3 years old, and Gesell intelligent score was evaluated at age of 1, 2 and 3 years, respectively. Developmental status and prognosis were evaluated. Next-generation sequencing (NGS) was used to screen all exons and exon-intron boundary sequences of the 27 known CH associated genes, and the relationship between genotypes and clinical phenotypes was analyzed.
Results:
Among the 40 children, the thyroid related pathogenic gene mutations were detected in 23 cases with a rate of 57.5%, and a total of 32 mutations of 8 genes were detected. Mutations in DUOX2, TPO and TSHR genes were the most common ones with mutation frequencies of 65.9%(29/44), 11.4%(5/44) and 9.1%(4/44), respectively. DUOX2 gene mutations were detected in 17 children with CH, and a total of 17 mutation types were detected. p.K530* was the most common mutation in DUOX2 gene, accounting for 20.7%(6/29). There was no significant difference in physical development and intelligence assessment between children with DUOX2 heterozygous mutation and compound heterozygous mutations. None of patients could terminate medication at 3 years of the follow-up and all of them were provisionally assessed as permanent CH. The physical and mental development assessment of children with other gene mutations were also in the normal range.
Conclusion:
The detection rate of DUOX2, TPO and TSHR pathogenic mutations are high among children with permanent CH in Yunnan area, and no correlation is observed between gene mutation types and prognosis in children with CH.
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