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A Novel Mutation Causing Complete Thyroxine-Binding Globulin Deficiency (TBG-CD-Negev) among the Bedouins in Southern Israel

First Department of Internal Medicine, Nagoya University School of Medicine (Y.M., A.I., Y.O.), Nagoya, Japan; Department of Pediatrics (E.H., M.P.) and Laboratory of Molecular Genetics (R.P.), Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84101, Israel

Address all correspondence and requests for reprints to: Eli Hershkovitz, M.D., Pediatric Department, Soroka Medical Center, P.O.B. 151, Beer Sheva 84101, Israel. E-mail: elih{at}bgumail.bgu.ac.il

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.

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