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 Citations (Scopus)

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
StatePublished - 1997
Externally publishedYes

Fingerprint

Thyroid Hormone Resistance Syndrome
Thyroid Hormone Receptors
Point Mutation
Genes
Thyroid Function Tests
Mutation
Adenine Nucleotides
Guanine
Triiodothyronine
Thyroid Hormones
Codon
Alleles

ASJC Scopus subject areas

  • Endocrinology

Cite this

Nagashima, T., Yagi, H., Nagashima, K., Sakurai, A., Onigata, K., Nomura, Y., ... 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.

A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone. / Nagashima, Tomohisa; Yagi, Hideki; Nagashima, Kanji; Sakurai, Akihiro; Onigata, Kazumichi; Nomura, Yoko; Morikawa, Akihiro; Matazow, Gail; Couch, R. M.; Weiss, Roy E; Refetoff, Samuel.

In: Thyroid, Vol. 7, No. 5, 1997, p. 771-773.

Research output: Contribution to journalArticle

Nagashima, T, Yagi, H, Nagashima, K, Sakurai, A, Onigata, K, Nomura, Y, Morikawa, A, Matazow, G, Couch, RM, Weiss, RE & Refetoff, S 1997, 'A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone', Thyroid, vol. 7, no. 5, pp. 771-773.
Nagashima T, Yagi H, Nagashima K, Sakurai A, Onigata K, Nomura Y et al. A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone. Thyroid. 1997;7(5):771-773.
Nagashima, Tomohisa ; Yagi, Hideki ; Nagashima, Kanji ; Sakurai, Akihiro ; Onigata, Kazumichi ; Nomura, Yoko ; Morikawa, Akihiro ; Matazow, Gail ; Couch, R. M. ; Weiss, Roy E ; Refetoff, Samuel. / A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone. In: Thyroid. 1997 ; Vol. 7, No. 5. pp. 771-773.
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