References
[1] Chiesa Al, Prieto L, Mendez V, et al. Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010)[J]. Horm Res Paediatr, 2013, 80(3):185-192.
[2] Nettore IC, Cacace V, De Fusco C, et al. The molecular causes of thyroid dysgenesis:a systematic review[J]. J Endocrinol Invest, 2013, 36(8):654-664.
[3] Fu C, Wang J, Luo S, et al. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism CH and CH patients[J]. Clin Chim Acta, 2016, 462:127-132.
[4] Chang WC, Liao CY, Chen WC, et al. R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children[J]. Clin Chim Acta, 2012, 413(11-12):1004-1007.
[5] Qiu YL, Ma SG, Liu H, et al. Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism[J]. Endocr Res, 2016, 41(3):180-184.
[6] Fan X, Fu C, Shen Y, et al. Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism[J]. Clin Chim Acta, 2017, 468:76-80.
[7] Wang F, Liu C, Jia X, et al. Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis[J]. Clin Chim Acta, 2017, 470:36-41.
[8] 袁哲锋, 罗燕斐, 吴亦栋, 等. 先天性甲状腺功能减低症汉族儿童的促甲状腺素受体基因失活突变[J]. 中华儿科杂志, 2007, 45(7):508-512.
[9] Yuan ZF, Mao HQ, Luo YF, et al. Thyrotropin receptor and thyroid transcription factor-1genes variant in Chinese children with congenital hypothyroidism[J]. Endocr J, 2008, 55(2):415-423.
[10] Jiang H, Wu J, Ke S, et al. High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China[J]. Eur J Med Genet, 2016, 59(10):526-531.
[11] Fu C, Chen R, Zhang S, et al. PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism[J]. Clin Chim Acta, 2015, 450:322-326.
[12] Ramos HE, Carré A, Carré A, et al. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations[J]. Eur J Endocrinol, 2014, 171(4):499-507.
[13] Al Taji E, Biebermann H, Límanová Z, et al. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism:identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism[J]. Eur J Endocrinol, 2007, 156(5):521-529.
[14] Liu S, Wang X, Zou H, et al. Identification and characterization of novel PAX8 mutations in congenital hypothyroidism CH in a Chinese population[J]. Oncotarget, 2017, 8(5):8707-8716.
[15] Liu SG, Zhang SS, Zhang LQ, et al. Screening of PAX8 mutations in Chinese patients withcongen ital hypothyroidism[J]. J Endocrinol Invest, 2012, 35(10):889-892.
[16] Zou H, Chai J, Liu S, et al. A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis[J]. Int J Clin Exp Pathol, 2015, 8(9):11434-11439.
[17] Szinnai G. Clinical genetics of congenital hypothyroidism[J]. Endocr Dev, 2014, 26:60-78.
[18] Lazzaro D, Price M, de Felice M, et al. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain[J]. Development, 1991, 113(4):1093-1104.
[19] Civitareale D, Lonigro R, Sinclair AJ, et al. A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter[J]. EMBO J, 1989, 8(9):2537-2542.
[20] Nettore I, Ferrara AM, Mirra P, et al. Identification and functional characterization of a novel mutation in the NKX2-1 gene:comparison with the data in the literature[J]. Thyroid, 2013, 23(6):675-682.
[21] De Felice M, Ovitt C, Biffali E, et al. A mouse model for hereditary thyroid dysgenesis and cleft palate[J]. Nat Genet, 1998, 19(4):395-398.
[22] Nettore IC1, Cacace V, De Fusco C, et al. The molecular causes of thyroid dysgenesis:a systematic review[J]. J Endocrinol Invest, 2013, 36(8):654-664.
[23] Qiu YL, Ma SG, Liu H, et al. Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism[J]. Endocr Res, 2016, 41(3):180-184.
[24] Liu S, Chai J, Zheng G, et al. Screening of HHEX mutations in Chinese children with thyroid dysgenesis[J]. J Clin Res Pediatr Endocrinol, 2016, 8(1):21-25.
[25] Lamas L, Anderson PC, Fox JW, et al. Consensus sequences for early iodination and hormonogenesis in human thyroglobulin[J]. J Biol Chem, 1989, 264(23):13541-13545.
[26] Hu X, Chen R, Fu C, et al. Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism[J]. Mol Cell Endocrinol, 2016, 423:60-66.
[27] Fu C, Luo S, Zhang S, et al. Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism SCH and CH patients[J]. Clin Chim Acta, 2016, 458:30-34.
[28] Liu S, Zhang S, Li W, et al. Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism[J]. Twin Res Hum Genet, 2012, 15(1):126-132.
[29] Niu DM, Hsu JH, Chong KW, et al. Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis[J]. J Clin Endocrinol Metab, 2009, 94(12):5045-5052.
[30] Cangul H, Aycan Z, Olivera-Nappa A, et al. Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community[J]. Clin Endocrinol (Oxf), 2013, 79(2):275-281.
[31] Fu C, Xie B, Zhang S, et al. Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism[J]. BMJ Open, 2016, 6(5):e010719.
[32] Niu DM, Hwang B, Chu YK, et al. High prevalence of a novel mutation (2268 ins T) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect[J]. J Clin Endocrinol Metab, 2002, 87(9):4208-4212.
[33] 黄永兰, 谭敏沂, 蒋翔, 等. 疑似甲状腺素合成障碍性永久性先天性甲状腺功能减低症患儿TPO、DUOX2及DUOXA2基因突变分析[J]. 中华儿科杂志, 2017, 55(3):210-214.
[34] Lee CC, Harun F, Jalaludin MY, et al. Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis[J]. BMJ Open, 2015, 5(1):e006121.
[35] Ma SG, Zheng X, Qiu YL, et al. Compound heterozygous mutations p.T561M and c.2422delT in the TPO gene associated with congenital hypothyroidism[J]. J Pediatr Endocrinol Metab, 2016, 29(5):567-570.
[36] Lee CC, Harun F, Jalaludin MY, et al. Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism[J]. Biomed Res Int, 2014, 2014:370538.
[37] Ma SG, Wu XJ, Liu H, et al. Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism[J]. Arq Bras Endocrinol Metabol, 2012, 56(9):614-617.
[38] Muzza M, Rabbiosi S, Vigone MC, et al. The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects[J]. J Clin Endocrinol Metab, 2014, 99(3):544-553.
[39] Fu C, Zhang S, Su J, et al. Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism[J]. J Endocrinol Invest, 2015, 38(11):1219-1224.
[40] Wang F, Lu K, Yang Z, et al. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes[J]. Clin Endocrinol (Oxf), 2014, 81(3):452-457.
[41] Zheng X, Ma SG, Qiu YL, et al. A Novel c.554+5C>T mutation in the DUOXA2 gene combined with p.R885Q mutation in the DUOX2 gene causing congenital hypothyroidism[J]. J Clin Res Pediatr Endocrinol, 2016, 8(2):224-227.
[42] 柴建, 杨晓龙, 郭明贞, 等. 先天性甲状腺功能减退症患儿DUOX2基因突变的研究[J].中国当代儿科杂志, 2015, 17(1):40-44.
[43] Liu S, Zhang W, Zhang L, et al. Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter[J]. Oncotarget, 2016, 7:1-9.
[44] 吕志萍, 李桂花, 李文杰, 等. 暂时性甲状腺功能减低症伴甲状腺肿大患儿DUOX2基因突变的研究[J]. 中华儿科杂志, 2011, 49(12):943-946.
[45] Liu S, Liu L, Niu X, et al. A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression[J]. J Clin Endocrinol Metab, 2015, 100(4):1225-1229.
[46] Zheng X, Ma SG, Guo ML, et al. Compound heterozygous mutations in the DUOX2/DUOXA2 genes cause congenital hypothyroidism[J]. Yonsei Med J, 2017, 58(4):888-890.
[47] Fu C, Zheng H, Zhang S, et al. Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism[J]. Arch Endocrinol Metab, 2016, 60(4):323-327.