PMID- 15186611
OWN - NLM
STAT- MEDLINE
DCOM- 20050111
LR  - 20131121
IS  - 1050-7256 (Print)
IS  - 1050-7256 (Linking)
VI  - 14
IP  - 5
DP  - 2004 May
TI  - Search for genetic variants in the retinoid X receptor-gamma-gene by polymerase 
      chain reaction-single-strand conformation polymorphism in patients with 
      resistance to thyroid hormone without mutations in thyroid hormone receptor beta 
      gene.
PG  - 355-8
AB  - Resistance to thyroid hormone (RTH) is an inherited disease characterized by 
      reduced tissue sensitivity to thyroid hormone. Approximately 90% of subjects with 
      RTH have mutation in the thyroid hormone receptor beta (TRbeta) gene. 
      Approximately 10% of subjects diagnosed as having RTH do not carry mutation in 
      the TRbeta gene. A possible linkage was reported with the retinoid X 
      receptor-gamma (RXR-gamma) gene in two families. The aim of this study is to 
      search for mutation within the RXR-gamma gene in unrelated subjects with 
      diagnosed RTH without mutations in the TRbeta gene. Four subjects with RTH were 
      studied, and sequence variants in the RXR-gamma gene were searched by polymerase 
      chain reaction-single-strand conformation polymorphism (PCR-SSCP). Analysis of 
      all the 10 exons of the RXR-gamma gene, including intron-exon boundaries, 
      promoter region and 3' untranslated region (UTR) reveled two variant bands in 
      subjects II and III. Sequencing of these variants showed two single nucleotide 
      polymorphisms (SNPs): 447C > T in exon 3 for patients II and IVS9 + 6A > G for 
      patient III. Both SNPs were also present at high frequency in a group of normal 
      subjects and in nonaffected relatives of subject III. In conclusion, in patients 
      with RTH we have found two SNPs in the RXR-gamma gene; these SNPS are common in 
      the general population, thus excluding a role for the RXR-gamma gene in these 
      patients.
FAU - Romeo, Stefano
AU  - Romeo S
AD  - Department of Clinical Sciences, Division of Endocrinology, University of Rome La 
      Sapienza, Rome, Italy.
FAU - Menzaghi, Claudia
AU  - Menzaghi C
FAU - Bruno, Rocco
AU  - Bruno R
FAU - Sentinelli, Federica
AU  - Sentinelli F
FAU - Fallarino, Mara
AU  - Fallarino M
FAU - Fioretti, Francesca
AU  - Fioretti F
FAU - Filetti, Sebastiano
AU  - Filetti S
FAU - Balsamo, Armando
AU  - Balsamo A
FAU - Di Mario, Umberto
AU  - Di Mario U
FAU - Baroni, Marco G
AU  - Baroni MG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Thyroid
JT  - Thyroid : official journal of the American Thyroid Association
JID - 9104317
RN  - 0 (DNA Primers)
RN  - 0 (Receptors, Thyroid Hormone)
RN  - 0 (Retinoid X Receptor gamma)
RN  - 0 (Thyroid Hormone Receptors beta)
RN  - 0 (Thyroid Hormones)
RN  - 06LU7C9H1V (Triiodothyronine)
RN  - 9002-71-5 (Thyrotropin)
SB  - IM
MH  - Adult
MH  - DNA Primers
MH  - Exons/genetics
MH  - Female
MH  - *Genetic Variation
MH  - Goiter/genetics
MH  - Humans
MH  - Introns/genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Polymerase Chain Reaction/methods
MH  - *Polymorphism, Single Nucleotide
MH  - Receptors, Thyroid Hormone/*genetics
MH  - Retinoid X Receptor gamma/*genetics
MH  - Thyroid Hormone Receptors beta
MH  - Thyroid Hormone Resistance Syndrome/*genetics
MH  - Thyroid Hormones/*pharmacology
MH  - Thyrotropin/blood
MH  - Triiodothyronine/blood
EDAT- 2004/06/10 05:00
MHDA- 2005/01/12 09:00
CRDT- 2004/06/10 05:00
PHST- 2004/06/10 05:00 [pubmed]
PHST- 2005/01/12 09:00 [medline]
PHST- 2004/06/10 05:00 [entrez]
AID - 10.1089/105072504774193177 [doi]
PST - ppublish
SO  - Thyroid. 2004 May;14(5):355-8. doi: 10.1089/105072504774193177.