Article
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
The Journal of clinical endocrinology and metabolism - 1 Jan 2015
Ferrara Alfonso Massimiliano, Pappa Theodora, Fu Jiao, Brown Christopher D, Peterson April, Moeller Lars C, Wyne Kathleen, White Kevin P, Pluzhnikov Anna, Trubetskoy Vassily, Nobrega Marcelo, Weiss Roy E, Dumitrescu Alexandra M, Refetoff Samuel
Abstract excerpt
CONTEXT: T4-binding globulin (TBG), a protein secreted by the liver, is the main thyroid hormone (TH) transporter in human serum. TBG deficiency is characterized by reduced serum TH levels, but normal free TH and TSH and absent clinical manifestations. The inherited form of TBG deficiency is usually due to a mutation in the TBG gene located on the X-chromosome. OBJECTIVE: Among the 75 families with...
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