中国先天性甲状腺功能减退症的遗传学研究进展
[Advances in genetic research of congenital hypothyroidism in China].
作者信息
Chen Xiao-Yu, Qin Xiao-Song
机构信息
Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Mar;20(3):243-250. doi: 10.7499/j.issn.1008-8830.2018.03.015.
Abstract
Congenital hypothyroidism (CH), which results from insufficient thyroid hormone biosynthesis, is one of the most common neonatal endocrine disorders. Thyroid dysgenesis and thyroid dyshormonogenesis are the two causes of CH and either one will lead to deficiencies of enzymes during thyroid hormone biosynthesis and insufficient thyroid hormone biosynthesis. Recently, researchers have performed extensive studies on genetics of CH. This paper reviews genes reported to be associated with CH in China.
摘要
先天性甲状腺功能减退症（CH）是由于甲状腺激素生物合成不足所致，是最常见的新生儿内分泌疾病之一。甲状腺发育不全和甲状腺激素合成障碍是CH的两个病因，任何一种都会导致甲状腺激素生物合成过程中酶的缺乏以及甲状腺激素生物合成不足。近年来，研究人员对CH的遗传学进行了广泛研究。本文综述了在中国报道的与CH相关的基因。
相似文献
1
[Advances in genetic research of congenital hypothyroidism in China].
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Mar;20(3):243-250. doi: 10.7499/j.issn.1008-8830.2018.03.015.
2
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Eur J Endocrinol. 2018 Jun;178(6):623-633. doi: 10.1530/EJE-17-1017. Epub 2018 Apr 12.
3
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
Endocr J. 2018 Oct 29;65(10):1019-1028. doi: 10.1507/endocrj.EJ18-0156. Epub 2018 Jul 18.
4
Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1265-1273. doi: 10.1515/jpem-2019-0047.
5
Molecular pathogenesis of neonatal hypothyroidism.
Horm Res. 2000;53 Suppl 1:12-8. doi: 10.1159/000053199.
6
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Oncotarget. 2017 Jan 31;8(5):8707-8716. doi: 10.18632/oncotarget.14419.
7
Genetics of Gland- or Hypoplastic Congenital Hypothyroidism in Macedonia.
Front Endocrinol (Lausanne). 2020 Jul 14;11:413. doi: 10.3389/fendo.2020.00413. eCollection 2020.
8
Genetic Evaluation of Congenital Hypothyroidism with Gland Using Targeted Exome Sequencing.
Ann Clin Lab Sci. 2021 Jan;51(1):73-81.
9
Iodide handling disorders (NIS, TPO, TG, IYD).
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):195-212. doi: 10.1016/j.beem.2017.03.006. Epub 2017 Apr 4.
10
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Thyroid. 2016 Sep;26(9):1215-24. doi: 10.1089/thy.2016.0016. Epub 2016 Aug 2.
引用本文的文献
1
[Risk factors for neonatal congenital hypothyroidism: a Meta analysis].
Zhongguo Dang Dai Er Ke Za Zhi. 2021 May;23(5):505-512. doi: 10.7499/j.issn.1008-8830.2011121.
本文引用的文献
1
Genetic and functional analysis of two missense mutations in congenital hypothyroidism and goiter.
Oncotarget. 2016 Jul 11;9(4):4366-4374. doi: 10.18632/oncotarget.10525. eCollection 2018 Jan 12.
2
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
Yonsei Med J. 2017 Jul;58(4):888-890. doi: 10.3349/ymj.2017.58.4.888.
3
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Clin Chim Acta. 2017 Jul;470:36-41. doi: 10.1016/j.cca.2017.04.020. Epub 2017 Apr 25.
4
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.
Clin Chim Acta. 2017 May;468:76-80. doi: 10.1016/j.cca.2017.02.009. Epub 2017 Feb 16.
5
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Oncotarget. 2017 Jan 31;8(5):8707-8716. doi: 10.18632/oncotarget.14419.
6
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
Clin Chim Acta. 2016 Nov 1;462:127-132. doi: 10.1016/j.cca.2016.09.007. Epub 2016 Sep 13.
7
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
Eur J Med Genet. 2016 Oct;59(10):526-31. doi: 10.1016/j.ejmg.2016.07.004. Epub 2016 Aug 3.
8
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
BMJ Open. 2016 May 12;6(5):e010719. doi: 10.1136/bmjopen-2015-010719.
9
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
J Pediatr Endocrinol Metab. 2016 May 1;29(5):567-70. doi: 10.1515/jpem-2015-0383.
10
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.
Clin Chim Acta. 2016 Jul 1;458:30-4. doi: 10.1016/j.cca.2016.04.019. Epub 2016 Apr 21.
Zotero 插件