A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone

Human Genetics

Volumn 97, Issue 3, 1996, Pages 407-408

  Kijima, Hiromichi ^a   Kubo, Mitsumasa ^a   Ishizuka, Tatsuya ^a   Kakinuma, Mitsuaki ^b   Koike, Takao ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID HORMONE RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR GENE; THYROID HORMONE RESISTANCE;

EID: 0030045205     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185783     Document Type: Article

References (6)

1. Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD (1991) Characterization of seven novel mutations of the c-erbAβ gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot-spot" regions of the ligand binding domain. J Clin Invest 88:2123-2130
2. Refetoff S, Weiss RE, Ursala SJ, Hayashi Y (1994) The syndromes of resistance to thyroid hormone: update 1994. Endocr Rev Monogr 336-343
3. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β. Proc Natl Acad Sci USA 86:8977-8981
4. Sakurai A, Nakai A, DeGroot LJ (1990) Structural analysis of human thyroid receptor β gene. Mol Cell Endocrinol 71:83-91
5. Takeda K, Sakurai A, DeGroot LJ, Refetoff S (1992) Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein coding-region of the thyroid hormone receptor-β gene. J Clin Endocrinol Metab 74:49-55
6. Weinberger C, Thompson CC, Ong ES, Lebo R, Groul DJ, Evans RM (1986) The c-erbA sene encodes a thyroid hormone receptor. Nature 324:641-646