Open AccessInsertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism
Author(s) -
Ryan J Bruellman,
Yui Watanabe,
Reham Shareef,
Mohamed Ahmed Abdullah,
Alexandra M. Dumitrescu,
Bernard S. Strauss,
Samuel Refetoff,
Roy E. Weiss
Publication year - 2020
Publication title -
thyroid
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.918
H-Index - 142
eISSN - 1557-9077
pISSN - 1050-7256
DOI - 10.1089/thy.2019.0636
Subject(s) - frameshift mutation , congenital hypothyroidism , alu element , thyroglobulin , insertion , gene , exon , biology , genetics , microbiology and biotechnology , medicine , thyroid , mutation , endocrinology , genome , human genome
The thyroglobulin ( TG ) gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious TG mutations produce congenital hypothyroidism (CH) often presenting with undetectable serum TG. Alu elements, common throughout the human genome, have a poly(dA) region in the 3' end of the strand. Herein two of four siblings of a consanguineous Sudanese family with CH, goiter, high initial serum thyrotropin, and undetectable TG were found to have a novel frameshift insertion of an Alu element within an exon of the TG gene: c.7909ins p.Y3637Ffs. This report demonstrates a novel Alu element insertion within TG causing CH.