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Background:  Thyroid dysgenesis (TD), which is caused by gland developmental abnormalities, is the most common cause of congenital hypothyroidism (CH). In addition, advances in diagnostic techniques have facilitated the identification of mild CH patients with a gland- in-situ  (GIS) with normal thyroid morphology. Therefore, TD and GIS account for the vast majority of CH cases.   Methods:  Sixteen known genes to be related to CH were sequenced and screened for variations by next-generation sequencing (NGS) in a cohort of 377 CH cases, including 288 TD cases and 89 GIS cases.   Results:  In our CH cohort, we found that  DUOX2  (21.22%) was the most commonly variant pathogenic gene, while  DUOXA2  was prominent in TD (18.75%) and  DUOX2  was prominent in GIS (34.83%). Both biallelic and triple variants of  DUOX2  were found to be most common in children with TD and children with GIS. The most frequent combination was  DUOX2  with  DUOXA1  among the 61 patients who carried digenic variants. We also found for the first time that biallelic  TG, DUOXA2 , and  DUOXA1  variants participate in the pathogenesis of TD. In addition, the variant p.Y246X in  DUOXA2  was the most common variant hotspot, with 58 novel variants identified in our study.   Conclusion:  We meticulously described the types and characteristics of variants from sixteen known gene in children with TD and GIS in the Chinese population, suggesting that  DUOXA2  and  DUOX2  variants may confer susceptibility to TD and GIS via polygenic inheritance and multiple factors, which further expands the genotype-phenotype spectrum of CH in China.

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism