RGD Reference Report - DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. - Rat Genome Database

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DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone.

Authors: Lam, CW  On-Kei Chan, A  Tong, SF  Shek, CC  Cheung Tiu, S 
Citation: Lam CW, etal., Clin Chim Acta. 2005 Aug;358(1-2):55-9.
RGD ID: 1601659
Pubmed: PMID:15913586   (View Abstract at PubMed)
DOI: DOI:10.1016/j.cccn.2005.02.014   (Journal Full-text)

BACKGROUND: Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis. METHODS: We used direct DNA sequencing of the THRB gene. RESULTS: We identified a novel missense mutation, I276L, located in exon 8 of the gene. The mutation is located in cluster 3 of the ligand-binding domain, a protein domain associated with resistance to thyroid hormone. CONCLUSION: DNA-based diagnosis of thyroid hormone resistance syndrome is simple, reliable, and economical compared to traditional biochemical tests. Once the mutation is identified, targeted screening for the whole family can be performed and the unnecessary use of anti-thyroid drugs or thyroidectomy can be avoided.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
thyroid hormone resistance syndrome susceptibilityIAGP 1601659DNA:missense mutation:exon:p.I276L (human)RGD 
thyroid hormone resistance syndrome susceptibilityISOTHRB (Homo sapiens)1601659; 1601659DNA:missense mutation:exon:p.I276L (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Thrb  (thyroid hormone receptor beta)

Genes (Mus musculus)
Thrb  (thyroid hormone receptor beta)

Genes (Homo sapiens)
THRB  (thyroid hormone receptor beta)


Additional Information