Mutation in the thyroid hormone receptor (TR) β gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH)

Thyroid

Volumn 6, Issue 6, 1996, Pages 571-573

  Refetoff, Samuel ^a   Tunca, Hakan ^a   Wilansky, Douglas L ^b   Mussey, Victoria C ^c   Weiss, Roy E ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b Etobicoke General Hospital   (Canada)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ENDODEOXYRIBONUCLEASE MAEII; THYROID HORMONE RECEPTOR; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ALLELE; ARTICLE; CASE REPORT; CHEMISTRY; CHILD; DNA SEQUENCE; FEMALE; GENETICS; HUMAN; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; THYROID HORMONE RESISTANCE;

ALLELES; CHILD; DEOXYRIBONUCLEASE ECORI; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, THYROID HORMONE; SEQUENCE ANALYSIS, DNA; THYROID HORMONE RESISTANCE SYNDROME;

EID: 0030340402     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1996.6.571     Document Type: Article

References (6)

1. Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399.
2. Announcement. 1994 A registry for resistance to thyroid hormone. Mol Endocrinol 8:1558.
3. Usala SJ, Menke JB, Watson TL et al. 1991 A homozygous deletion in the c-erbAβ thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: Isolation and characterization of the mutant receptor. Mol Endocrinol 5:327-335.
4. Weiss RE, Weinberg M, Refetoff S 1993 Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene: Analysis of 15 families. J Clin Invest 91:2408-2415.
5. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid hormone receptor β gene. J Clin Invest 94:506-515.
6. Ganly PS, Rabbitts PH 1991 Polymerase chain reaction (PCR) for detection of EcoRI polymorphism at the THRB gene. Nucleic Acids Res 19:3760.