Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism.
Endocrinology
; 162(8)2021 08 01.
Article
en En
| MEDLINE
| ID: mdl-33631011
ABSTRACT
PURPOSE:
The objectives of this study were to analyze the distribution of dual oxidase (DUOX) system genes (containing DUOX2, DUOX1, DUOXA2, and DUOXA1) variants in children with congenital hypothyroidism (CH) and their phenotypes.METHODS:
Target region sequencing technology was performed on DUOX system genes among 606 CH subjects covering all the exon and intron regions. Detailed clinical data were collected for statistical analysis.RESULTS:
A total of 95 suspected pathogenic variants were detected in the DUOX system genes, showing a 39.11% rate in variant carrying (237/606). DUOX2 had the highest rate in this study. There were statistical differences in maximum adjusted dose and current dose of levothyroxine between the DUOX system genes nonmutated group with the mutated group (both Psâ <â 0.001). The cases in the DUOX system genes mutated group were more likely to develop into transient CH (χâ2â =â 23.155, Pâ <â 0.001) and more likely to manifested as goiter or gland-in-situ (χâ2â =â 66.139, Pâ <â 0.001). In addition, there was no significant difference in clinical characteristics between DUOX system genes monoallelic and non-monoallelic. Although 20% of the variants affected the functional domain regions (EF hand, flavin adenine dinucleotide and nicotinamide adenine dinucleotide binding sites), there was no significant effect on the phenotype severity whether the variation is located in the functional domain regions.CONCLUSIONS:
Our results showed the high variation rate of DUOX2 in the DUOX system genes among Chinese CH patients. The complex genotype-phenotype relationship of DUOX system genes broadened the understanding of CH phenotype spectrum.Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Hipotiroidismo Congénito
/
Oxidasas Duales
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
Endocrinology
Año:
2021
Tipo del documento:
Article
País de afiliación:
China