Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism

Ryan Bruellman, Yui Watanabe, Reham Shareef, Mohamed A. Abdullah, Alexandra Dumitrescu, Bernard S. Strauss, Samuel Refetoff, Roy E. Weiss

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)780-782
Number of pages3
Issue number5
StatePublished - May 1 2020


  • Alu element
  • TG
  • congenital hypothyroidism
  • goiter
  • novel mutation
  • thyroglobulin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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