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Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Abstract：

: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.

journal_name

Mol Cell Endocrinol

journal_title

Molecular and cellular endocrinology

authors

Hu X,Chen R,Fu C,Fan X,Wang J,Qian J,Yi S,Li C,Luo J,Su J,Zhang S,Xie B,Zheng H,Lai Y,Chen Y,Li H,Gu X,Chen S,Shen Y

doi

10.1016/j.mce.2016.01.007

subject

Has Abstract

pub_date

2016-03-05 00:00:00

pages

60-6

eissn

0303-7207

issn

1872-8057

pii

S0303-7207(16)30007-7

journal_volume

423

pub_type

杂志文章

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