• N. Engl. J. Med. · Jan 2012

    Case Reports

    A mutation in the thyroid hormone receptor alpha gene.

    • Elena Bochukova, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Odelia Rajanayagam, Julia M Keogh, Elana Henning, Jana Reinemund, Evelien Gevers, Margarita Sarri, Kate Downes, Amaka Offiah, Assunta Albanese, David Halsall, John W R Schwabe, Murray Bain, Keith Lindley, Francesco Muntoni, Faraneh Vargha-Khadem, KhademFaraneh VarghaFV, Mehul Dattani, I Sadaf Farooqi, Mark Gurnell, and Krishna Chatterjee.
    • University of Cambridge Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom.
    • N. Engl. J. Med. 2012 Jan 19; 366 (3): 243-9.

    AbstractThyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2) receptors. Here we describe a child with classic features of hypothyroidism (growth retardation, developmental retardation, skeletal dysplasia, and severe constipation) but only borderline-abnormal thyroid hormone levels. Using whole-exome sequencing, we identified a de novo heterozygous nonsense mutation in a gene encoding thyroid hormone receptor alpha (THRA) and generating a mutant protein that inhibits wild-type receptor action in a dominant negative manner. Our observations are consistent with defective human TRα-mediated thyroid hormone resistance and substantiate the concept of hormone action through distinct receptor subtypes in different target tissues.

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