New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

C. E. CITTERIO, G. A. MACHIAVELLI, M. B. MIRAS, L. GRUÑEIRO-PAPENDIECK, K. LACHLAN, G. SOBRERO, ANA CHIESAD, J. WALKER, LILIANA MUÑOZ, G. TESTA, F. S. BELFORTE, R. GONZÁLEZ-SARMIENTO, C. M. RIVOLTA, H. M. TARGOVNIK

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Lugar: Amsterdam; Año: 2013 vol. 365 p. 277 - 277

rticle history: Received 21 July 2012 Received in revised form 25 October 2012 Accepted 5 November 2012 Available online 16 November 2012 Keywords: Thyroglobulin gene Mutation Truncated thyroglobulin proteins Goiter Hypothyroidism abstract The thyroglobulin (TG) gene is organized in 48 exons, spanning over 270 kb on human chromosome 8q24. Up to now, 62 inactivating mutations in the TG gene have been identified in patients with congen- ital goiter and endemic or non-endemic simple goiter. The purpose of the present study was to identify and characterize new mutations in the TG gene. We report 13 patients from seven unrelated families with goiter, hypothyroidism and low levels of serum TG. All patients underwent clinical, biochemical and imaging evaluation. Single-strand conformation poly- morphism (SSCP) analysis, endonuclease restriction analysis, sequencing of DNA, genotyping, population screening, and bioinformatics studies were performed. Molecular analyses revealed seven