Open AccessNovel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report
Author(s) -
Pingping Dang,
Weiwei Xiao,
Zhongyan Shan,
Yue Xi,
Ranran Wang,
XiaoJuan Yu,
Weiping Teng,
Xiaochun Teng
Publication year - 2019
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v7.i22.3887
Subject(s) - thyroxine binding globulin , frameshift mutation , medicine , endocrinology , mutation , triiodothyronine , globulin , genetics , biology , thyroid , gene
Thyroxine-binding globulin (TBG; the gene product of SERPINA7 ) is the main transporter of thyroid hormones in humans. Mutations in the TBG gene may lead to inherited TBG deficiency. There have been 28 reported mutations that associate with complete TBG deficiency (TBG-CD). Here we identified a novel frameshift mutation causing early termination of the TBG protein and TBG-CD in a Chinese family.