[1] Kopp P.Perspective:genetic defects in the etiology of congenital hypothyroidism[J].Endocrinology,2002,143(6):2019-2024.
[2] Dias VM,Campos AP,Chagas AJ,et al.Congenital hypothyroidism:etiology[J].J Pediatr Endocrinol Metab,2010,23(8):815-826.
[3] Raef H,Al-Rijjal R,Al-Shehri S,et al.Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma[J].J Clin Endocrinol,2010,95:1000-1006.
[4] Tomer Y,Greenberg DA,Concepcion E,et al.Thyroglobulin is a thyroid-specific gene for the familial autoimmune thyroid diseases[J].J Clin Endocrinol Metab,2002,87:404-407.
[5] Targovnik HM,Esperante SA,Rivolta CM.Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations[J].Mol Cell Endocrinol,2010,322:44-55.
[6] Hishinuma A,Fukata S,Nishiyama S,et al.Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan[J].J Clin Endocrinol Metab,2006,91:3100-3104.
[7] Caputo M,Rivolta CM,Esperante SA,et al.Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene[J].Clin Endocrinol (Oxf),2007,67:351-357.
[8] Pardo V,Vono-Toniolo J,Rubio IG,et al.The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation[J].J Clin Endocrinol Metab,2009,94:2938-2944.
[9] Peteiro-Gonzalez D,Lee J,Rodriguez-Fon-tan J,et al.New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter[J].J Clin Endocrinol Metab,2010,95:3522-3526.
[10] Gutnisky VJ,Moya CM,Rivolta CM,et al.Two distinct compound heterozygous constellation (R277X/IVS34-1G 1 C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis[J].J Clin Endocrinol Metab,2004,89:646-657.
[11] Caputo M,Rivolta CM,Gutnisky VJ,et al.Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyrolobul in gene in unrelated families with congenital goiter and hypothyroidism:haplotype analysis using intragenic thyroglobulin polymorphisms[J].J Endocrinol,2007,195:167-177.
[12] Machiavelli GA,Caputo M,Rivolta CM,et al.Molecular analysis of congenital goiters with hypothyroidism caused by defective thyroglobulin synthesis.Identification of a novel c.7006C 1 T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7[J].Clin Endocrinol (Oxf),2010,72:112-121.
[13] Citterio CE,Coutant R,Rouleau S,et al.A new compound heterozygous for c.886C 1 T/c.2206C 1 T [p.R277X/p.Q717X] mutations in the thyroglobul in gene as a cause of foetal goitrous hypothyroidism[J].Clin Endocrinol(Oxf),2011.DOI:
[14] Targovnik HM,Souchon PF,Machiavelli GA,et al.Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene[J].Clin Endocrinol (Oxf),2010,72:716-718.
[15] 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,2009,94:5045-5052.
[16] Pardo V,Rubio IG,Knobel M,et al.Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations[J].Thyroid,2008,18:783-786.
[17] Héctor MT,Thomas E,Viviana V,et al.Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism:Identifcation a cryptic donor splice site in the exon 19[J].Molecular and Cellular Endocrinology,2012,348:313-321.
[18] Caron P,Moya CM,Malet D,et al.Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G 1 A[R2223H]) resulting in fetal goitrous hypothyroidism[J].J Clin Endocrinol Metab,2003,88:3546-3553. |
