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FOXE1基因突变与甲状腺发育不全 被引量：2

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摘要 甲状腺发育不全(thyroid dysgenesis,TD)是先天性甲状腺功能低下症(thyroid hypofunction,CH)的病因之一,约2%～3%的TD与甲状腺发育过程中的转录因子突变有关系,FOXE1突变是当前研究的热点,本文就FOXE1的结构、基因突变位点、突变的功能及与甲状腺发育的关系进行了综述,为其基因研究提供依据。
作者 李玉芬 张立琴
机构地区 青岛市妇女儿童医疗保健中心
出处 《中国儿童保健杂志》 CAS 北大核心 2012年第2期149-150,共2页 Chinese Journal of Child Health Care
基金 青岛市科技局科技发展项目(10-3-3-2-3-nsh)
关键词 甲状腺发育不全 FOXEI基因 儿童
分类号 R725.8 [医药卫生—儿科]
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参考文献11

  • 1Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States[J]. Mol Genet-Metab, 2007,91 (3) : 268-277.
  • 2Santistehan P, Acebron A, Polycarpou. Insulin and insulinlike growth factor I regulate a thyroid-specific nuclear protein that binds to the thyroglobulin promoter[J]. Mol Endocrinol, 1992,6 : 1310-1317.
  • 3Clifton-Bligh RJ, Wentworth JM, Heinz P. Mutation of the gene encoding human TTF 2 associated with thyroid agenesis, cleft palate and choanal atresia[J]. Nat Genet, 1998,19 : 399-401.
  • 4Castanet M,Park SM,Smith A. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroid- ism,thyroid agenesis, and cleft palate[J]. Hum Mol Genet, 2002,11:2051-2059.
  • 5Baris I, Arisoy AE, Smith A, et al. A novel missense muta tion in human TTF-2 (FKHL15) gene associated with con genital hypothyroidism but not athyreosis[J]. J Clin Endocrinol Metab ,2006,91:4183-4187.
  • 6Castanet M, Mallya U, Agostini M. Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromie congenital hypothyroidism[J].J Clin Endocrinol Metab, 2010,95 (8) : 4031- 4036.
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  • 8Szczepanek E, Ruchala M, Szaflarski W. FOXE1 polyalanine tract length polymorphism in patients with thyroid hernia genesis and subjects with normal thyroid[J]. Horm Res Pae diatr, 2011,75 (5) : 329-334.
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同被引文献23

  • 1都健,刘国良,张峻.先天性甲状腺发育异常97例临床分析[J].中国医科大学学报,1996,25(6):643-644. 被引量：1
  • 2Seok H, Oh S J, Ha WC, et al. Dual ectopic thyroid presenting with an anterior neck mass [J]. Korean J Intern Med, 2015, 30(1): 129-130.
  • 3Sapkota S, Kumar PH, Pokhrel R. Thyroid isthmus agenesis [J]. Med J DY Patil Univ, 2015, 8(4): 563-565.
  • 4Kansal A, Aggarwal S. 'Two are not always better than one' --dual ectopic thyroid: a rare anomaly [J]. Thyroid Res Pract, 2014, 11(3): 113-115.
  • 5Singh GB, Kumar D, Ranjan S, et al. A rare case of double ectopic thyroid without orthotopic thyroid gland [J]. Int J Pediatr Otorhinolaryngol Extra, 2015, 10: 28-30.
  • 6Carr6 A, Szinnai G, Castanet M, et al. Five new TTF1/ NKX2.1 mutations in brain-lung-thyroid syndrome:rescue by PAX8 synergism in one case [J]. Hum Mol Genet, 2009, 18(12): 2266-2276.
  • 7Kusakabe T, Kawaguchi A, Hoshi N, et al. Thyroid-specific enhancer-binding protein/Nkx2.1 is required for the maintenance of ordered architecture and function of the differentiated thyroid [J]. Mol Endocrinol, 2006, 20(8): 1796-1809.
  • 8Fagman H, Andersson L, Nilsson M. The developing mouse thyroid: embryonic vessel contacts and parenchymal growth pattern during specification, budding, migration, and lobulation [J]. Dev Dyn, 2006, 235(2): 444-455.
  • 9Parlato R, Rosica A, Rodriguez-Mallon A, et al. An integrated regulatory network controlling survival and migration in thyroid organogenesis [J]. Dev Biol, 2004, 276(2): 464-475.
  • 10Pasca di Magliano M, Di Lauro R, Zannini M. Pax8 has a key role in thyroid cell differentiation [J]. Proc Natl Acad Sci U S A, 2000, 97(24): 13144-13149.

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中国儿童保健杂志
2012年 第2期

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