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Human disease

Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease

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Genomic and epigenomic techniques identify a new variation type causing Mendelian disease by altering the non-coding regulatory network in thyroid cells — solving a hidden cause linked for 20 years.

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Fig. 1: Variation of short tandem repeat associated with thyroid disease in humans.

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Acknowledgements

A.C. is supported by the Medical Research Council (MR/T001712/1), Fondazione Cariplo (grant no. 2019-1836), the Inherited Neuropathy Consortium, Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia, project ID 1751723) and Ministero dell'Università e della Ricerca (PRIN F53D23002330006 - 20229MMHXP).

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Authors and Affiliations

  1. Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK

    Andrea Cortese & Henry Houlden

  2. Department of Brain and Behaviour Sciences, University of Pavia, Pavia, Italy

    Andrea Cortese

  3. IRCCS Mondino Foundation, Pavia, Italy

    Elisa Vegezzi

Authors
  1. Andrea Cortese
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  2. Elisa Vegezzi
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  3. Henry Houlden
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Correspondence to Andrea Cortese.

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Cortese, A., Vegezzi, E. & Houlden, H. Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease. Nat Genet 56, 738–739 (2024). https://doi.org/10.1038/s41588-024-01723-9

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