期刊
MOLECULAR AND CELLULAR ENDOCRINOLOGY
卷 423, 期 C, 页码 60-66出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mce.2016.01.007
关键词
Congenital hypothyroidism; Thyroglobulin gene; Genetic screening; Variants interpretation
资金
- National Natural Science Foundation of China [81260126, 81201353]
- Key Projects of Guangxi Health Department [2012025]
- Guangxi Natural Science Foundation Program [2012GXNSFAA053174]
Mutations in Thyroglobulin (TG) are common genetic causes of congenital hypothyroidism (CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been investigated. Here we conducted a genetic screening of TG gene in a cohort of 382 Chinese CH patients. We identified 22 rare non-polymorphic variants including six truncating variants and 16 missense variants of unknown significance (VUS). Seven patients carried homozygous pathogenic variants, and three patients carried homozygous or compound heterozygous VUS. 48 out of 382 patients carried one of 18 heterozygous VUS which is significantly more often than their occurrences in control cohort (P < 0.0001). Unique to Asian population, the c.274+2T>G variant is the most common pathogenic variant with an allele frequency of 0.021. The prevalence of CH due to TG gene defect in Chinese population was estimated to be approximately 1 /101,000. Our study uncovered ethnicity specific TG mutation spectrum and frequency. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
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