title: A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel.
abstract: T4-binding globulin (TBG) is the major thyroid hormone transport protein in human serum. Inherited TBG abnormalities do not usually alter the metabolic status and are transmitted in X-linked inheritance. A high prevalence of complete TBG deficiency (TBG-CD) has been reported among the Bedouin population in the Negev (southern Israel). In this study we report a novel single mutation causing complete TBG deficiency due to a deletion of the last base of codon 38 (exon 1), which led to a frame shift resulting in a premature stop at codon 51 and a presumed truncated peptide of 50 residues. This new variant of TBG (TBG-CD-Negev) was found among all of the patients studied. We conclude that a single mutation may account for TBG deficiency among the Bedouins in the Negev. This report is the first to describe a mutation in a population with an unusually high prevalence of TBG-CD.
authors.affiliation: First Department of Internal Medicine, Nagoya University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Miura
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: A
authors.initials: A
authors.lastname: Inagaki
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: Y
authors.initials: Y
authors.lastname: Oiso
authors.forename: M
authors.initials: M
authors.lastname: Phillip
mesh_terms: D018912:Arabs; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013960:Thyroid Function Tests; D013974:Thyroxine / Q000097:blood; D013975:Thyroxine-Binding Proteins / Q000172:deficiency* / Q000235:genetics*
chemical_list: D013975:Thyroxine-Binding Proteins; D004247:DNA; D013974:Thyroxine