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甲状腺相关基因突变与先天性甲状腺功能低下症 被引量：7

Thyroid associated gene mutation and congenital hypothyroidism
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摘要 先天性甲状腺功能低下症(CH)是引起儿童生长和神经发育障碍的常见内分泌疾病,主要由先天性甲状腺发育异常或甲状腺激素合成异常所致。近年来研究发现,部分CH患者存在甲状腺发育或甲状腺素合成相关基因的突变,文章就上述基因的生物学功能,基因突变患者的临床特征作一介绍。 Congenital hypothyroidism （CH） is the most common congenital endocrine disorder resulting from thyroid dysgenesis or dyshormonogenesis. Mutations were found recently in genes involved in thyroid gland development or thyroid hormone synthesis in some patients with CH. The biological functions of those genes and the clinical characteristics of patients with mutations in those genes are reviewed.
作者 于宝生
机构地区 南京医科大学第二附属医院小儿内分泌科
出处 《临床儿科杂志》 CAS CSCD 北大核心 2012年第12期1101-1104,共4页 Journal of Clinical Pediatrics
关键词 先天性甲状腺功能低下症 病因 基因突变 congenital hypothyroidism etiology gene mutation
分类号 R722.1 [医药卫生—儿科]
  • 相关文献

参考文献36

  • 1Montanelli L, Tonacchera M. Genetics and phenomics of hypo- thyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations [J]. Mol Cell Endocrinol, 2010, 322(1-2): 64-71.
  • 2Kimura S, Hara Y, Pineau T, et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary [J]. Genes Dev, 1996, 10(1): 60-69.
  • 3Devriendt K, Vanhole C, Matthijs G, et al. Deletion of thy- roid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure [J]. N Engl J Med, 1998, 338(18): 1317-1318.
  • 4Castanet M, Polak M. Spectrum of human Foxel/TTF2 mutations [J]. Horm Res Paediatr, 2010, 73(6): 423-429.
  • 5Bamforth JS, Hughes IA, Lazarus JH, et al. Congenital hypothyroidism, spiky hair, and cleft palate [J]. J MedGenet, 1989, 26(1): 49-51.
  • 6Cliflon-Bligh R J, Wentworth JM, Heinz P, eta/. Mutation of the gene encoding hamn ITF-2 associated with thyroid agenesis, clett palateandatresia[J].NatGenet, 1998, 19(4): 399-401.
  • 7Macchia PE, Lapi P, Krude H, etal. PAX8 mutations asso- ciated with congenital hypothyroidism caused by thyroid dysgenesis [J]. Nat Genet, 1998, 19(1): 83-86.
  • 8Parmentier M, Libert F, Maenhaut C, etal. Molecular cloning of the thyrotropin receptor [J].Science, 1989, 246(4937): 1620-1622.
  • 9Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, et al. Brief report: resistance to thyrotropin caused by mutations in the thyro- tropin-receptorgene [J].NEngl JMed, 1995, 332(3): 155-160.
  • 10马绍刚,方佩华,杨箐岩,刘戈力,马咸成,许静,李宁,陈慧,冯洁.TSH受体基因突变致先天性甲状腺功能减退症一例及其家系分析[J].中华内分泌代谢杂志,2006,22(1):41-44. 被引量：7

二级参考文献36

  • 1赵真,闫胜利,傅平.人钠/碘转运体354位点基因突变与先天性甲状腺功能减退症的相关性研究[J].中华儿科杂志,2004,42(6):456-457. 被引量：1
  • 2马绍刚,方佩华,杨箐岩,刘戈力,马咸成,许静,李宁,陈慧,冯洁.TSH受体基因突变致先天性甲状腺功能减退症一例及其家系分析[J].中华内分泌代谢杂志,2006,22(1):41-44. 被引量：7
  • 3程志强,蔡军,蔡芳,赵崇,张镜宇,张连祥,张建民,郑翠英.适于临床PCR法基因检测的血样处理[J].天津医科大学学报,1996,2(2):18-20. 被引量：14
  • 4沈永年.先天性甲状腺功能减低症.见顾学范,叶军主编.新生儿疾病筛查[M].第1版.上海:上海科学技术文献出版社,2003.129-138.
  • 5Rivolta CM & Targovnik HM. Molecular advances in thyroglobulin disorders[ J]. Clinica Chimica Acta ,2006,374:8 - 24.
  • 6Avbelj M, Tahirovic H, Debeljak M, et al. High prevalence of thyroidperoxidase gene mutations in patients with thyroid dyshormonogenesis [J]. Eur J Endocrinol,2007,156: 511 -519.
  • 7Knobel M, Medeiros - Neto G. An outline of inherited disorders of the thyroid hormone generating system[ J]. Thyroid ,2003,13:771 - 801.
  • 8Park SM, Chatterjee VK, Genetics of congenital hypothyroidism [ J ]. J Med Genet ,2005,42 ( 5 ) :379 - 389.
  • 9Kimura'S,Kotani T, McBride OW,et al. Human thyroid peroxidase: eompletec DNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs [ J ]. Proc Natl Acad Sci USA, 1987,84 : 5555 - 5559.
  • 10HGMD: http://www, hgmd. cf. ac. uk/ac/index, php.

共引文献8

同被引文献57

  • 1石玉萍.甲状腺功能减退症患者的护理措施.中外健康文摘,2011,8(4):311-312.
  • 2刘俊晓.电子垃圾拆解区环境雌激素暴露与儿童甲状腺激素水平改变及发育影响.汕头大学,2012,2(13):123-125.
  • 3La Franchi SH.Newborn screening strategies for congenital hypothyroidism:an update[J].J Inherit Metab Dis.2010,33(2):225-33.
  • 4Szinnai G.Genetics of normal and abnormal thyroid development in humans[J].Best Pract Res Clin Endocrinol Metab,2014,28(2):133-150.
  • 5Plachov D,Chowdhury K,Walther C,et al.Pax8,a murine paired box gene expressed in the developing excretory system and throid gland[J].Developmet,1990,36(110):643-651.
  • 6王学芹.先天性甲状腺功能减低症患者PAX8基因突变筛查及致病机理研究[M].青岛大学,2013.
  • 7Fu C1,Chen R1,Zhang S,etc.PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism[J].Clin Chim Acta,2015,23(1):322-326.
  • 8Fernández LP,López-Márquez A,Santisteban P.Thyroid transcription factors in development,differentiation and disease[J].Nat Rev Endocrinol,2015,11(1):29-42.
  • 9Guillot L,Carre A,Szinnai G,etc.NKX2-1 mutaions leading to surfactant protein promoter dysregulation cause interstitial lung disease in“brain-lung-thyroid syndrome”[J].Hum Mutat,2010,28(31):E1146.
  • 10Carre A,Hamza RT,Kariyawasam D,etc.A novel FOXE1 mutation(R73S)in Bamforth-Lazarus syndrome causing increased thyroidal gene expression[J].Thyroid,2014,(24):649-654.

引证文献7

二级引证文献317

临床儿科杂志
2012年 第12期

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