Three Novel Mutations Causing Complete T4-Binding Globulin Deficiency

Familial thyroxine-binding globulin deficiency.

Genetically determined thyroxine-binding globulin deficiency is described in two families in the United Kingdom. All subjects in both pedigrees were euthyroid. Transmission was by sex-linkage; males showed low serum protein bound iodine and high thyroxine (T4) resin uptake due to complete absence of serum thryroxine-binding globulin; females were less severely affected. The distinctive biochemi...

Characterization of seven novel mutations causing factor XI deficiency.

BACKGROUND AND OBJECTIVES Factor XI (FXI) deficiency is a rare autosomal recessive disorder, the main manifestation of which is injury-related bleeding. The disorder is rare in most populations, but common among Jews in whom two mutations, E117X and F283L, account for 98% of cases. Other mutations, C38R and C128X, are prevalent in French Basques and Britons, respectively. Additional sporadic mu...

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.

Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease. Mutations in the CYP11B2 gene are responsible for the occurrence of ASD, and the clinical manifestations of ASD vary with age. Affected infants may develop symptoms of mineralocorticoid deficiency, including clinical presentation with frequent vomiting, a variable degree of hyponatremia, hyperkalemia, and me...

Growth retardation and thyroxine-binding globulin deficiency.

Mass screening for complete deficiency of thyroxine-binding globulin in adult Japanese by comprehensive health examination.

The incidence of complete thyroxine-binding globulin (TBG) deficiency (TBG-CD) was determined for a Japanese population from a comprehensive health examination, in which a T3 resin uptake test of the upper 5% (78 subjects from among 1,589 men) was the screening line for TBG-CD. Further analysis of the known mutation in TBG-CD gene of the Japanese population (reported as TBG-CDJ with codon 352 d...