A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone

Tomohisa Nagashima, Hideki Yagi, Kanji Nagashima, Akihiro Sakurai, Kazumichi Onigata, Yoko Nomura, Akihiro Morikawa, Gail Matazow, R. M. Couch, Roy E. Weiss, Samuel Refetoff

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Resistance to thyroid hormone (RTH) is characterized by variable tissue hyporesponsiveness to thyroid hormone caused by mutations of thyroid hormone receptor β (TRβ) gene. We found a novel point mutation of the TRβ gene in a family (F123) with RTH, a transition of a guanine to adenine at nucleotide 1215, which replaced the normal Met-310 with Ile. This substitution was found in only one allele of affected family members. In vitro transcription and translation of this mutant TRβ demonstrated a 12-fold reduction of the affinity for triiodothyronine (T3) compared with the wild type TRβ. Thyroid function tests were similar to a previously reported RTH family (F99) who had a different mutation in the same codon (Thr 310).

Original languageEnglish (US)
Pages (from-to)771-773
Number of pages3
JournalThyroid
Volume7
Issue number5
DOIs
StatePublished - Jan 1 1997
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Nagashima, T., Yagi, H., Nagashima, K., Sakurai, A., Onigata, K., Nomura, Y., Morikawa, A., Matazow, G., Couch, R. M., Weiss, R. E., & Refetoff, S. (1997). A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone. Thyroid, 7(5), 771-773. https://doi.org/10.1089/thy.1997.7.771