Abstract【Objective】To investigate the gene mutations of TSHR, PAX8, TTF1, TTF2 and NKX2.5 in children with congenital hypothyroidism (CH), and to analyze the types and characteristics of gene mutations, so as to provide reference for early screening and clinical gene diagnosis of neonates.【Methods】Genomic DNA was extracted from 14 children with CH and all exons of TSHR, PAX8, TTF1, TTF2 and NKX2.5 genes were amplified by PCR. The amplified products were sequenced by second generation sequencing.【Results】The mutation sites were detected in 9 children with CH. Five suspicious pathogenic gene mutations were found in TSHR gene, two suspicious pathogenic gene mutations were found in PAX8 gene, one suspicious pathogenic gene mutation was found in TTF1 gene and TTF2 gene respectively, and no suspicious pathogenic gene mutation was found in NKX2.5 gene.【Conclusions】The known candidate genes TSHR, PAX8, TTF1 and TTF2 in children with CH all have gene mutations and further enlarged the mutation spectrum of TSHR gene. However, the specific relationship between genotype and phenotype is still unclear, and a large number of functional experiments are needed to verify it.
CHEN Xiao-yu,QIN Xiao-song,LIU Jian-hua, et al. Second Generation Sequencing of TSHR, PAX8, TTF1, TTF2 and NKX2.5 Genes in 14 Children with Congenital Hypothyroidism[J]. JOURNAL OF CLINICAL RESEARCH, 2019, 36(6): 1096-1099.
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2019, Vol. 36 
