The () gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious 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 gene: c.7909ins p.Y3637Ffs. This report demonstrates a novel Alu element insertion within causing CH.
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| http://dx.doi.org/10.1089/thy.2019.0636 | DOI Listing |
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