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

被引：6

作者：

Nagashima, T

Yagi, H

Nagashima, K

Sakurai, A

Onigata, K

Nomura, Y

Morikawa, A

Matazow, G

Couch, RM

Weiss, RE

Refetoff, S

机构：

[1] SHINSHU UNIV,SCH MED,DEPT GERIATR ENDOCRINOL & METAB,MATSUMOTO,NAGANO 390,JAPAN

[2] UNIV ALBERTA,SECT ENDOCRINOL & METAB,DEPT PSYCHIAT,EDMONTON,AB,CANADA

[3] UNIV ALBERTA,SECT ENDOCRINOL & METAB,DEPT PEDIAT,EDMONTON,AB,CANADA

[4] UNIV CHICAGO,JOSEPH P KENNEDY JR MENTAL RETARDAT RES CTR,DEPT MED,CHICAGO,IL 60637

[5] UNIV CHICAGO,JOSEPH P KENNEDY JR MENTAL RETARDAT RES CTR,DEPT PEDIAT,CHICAGO,IL 60637

来源：

THYROID | 1997年 / 7卷 / 05期

关键词：

D O I：

10.1089/thy.1997.7.771

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Resistance to thyroid hormone (RTH) is characterized by variable tissue hyporesponsiveness to thyroid hormone caused by mutations of thyroid hormone receptor beta (TR beta) gene. We found a novel point mutation of the TR beta 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 vitvo transcription and translation of this mutant TR beta demonstrated a 12-fold reduction of the affinity for triiodothyronine (T3) compared with the wild type TR beta. Thyroid function tests were similar to a previously reported RTH family (F99) who had a different mutation in the same codon (Thr 310).

引用

页码：771 / 773

页数：3

共 12 条

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GANLY PS, 1991, NUCLEIC ACIDS RES, V19, P3760

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