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

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 stran...

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Bibliographic Details
Published inThyroid (New York, N.Y.) Vol. 30; no. 5; p. 780
Main Authors Bruellman, Ryan, Watanabe, Yui, Shareef, Reham, Abdullah, Mohamed A, Dumitrescu, Alexandra, Strauss, Bernard S, Refetoff, Samuel, Weiss, Roy E
Format Journal Article
LanguageEnglish
Published United States 01.05.2020
Subjects
Alu Elements
Child
Child, Preschool
Congenital Hypothyroidism - blood
Congenital Hypothyroidism - drug therapy
Congenital Hypothyroidism - genetics
Female
Humans
Mutagenesis, Insertional
Thyroglobulin - blood
Thyroglobulin - genetics
Thyroxine - therapeutic use
goiter
Alu element
TG
thyroglobulin
congenital hypothyroidism
novel mutation
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Summary: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.
ISSN:1557-9077
DOI:10.1089/thy.2019.0636