This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Miura, Y. Articles by Phillip, M. Search for Related Content PubMed PubMed Citation Articles by Miura, Y. Articles by Phillip, M.

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.

This article has been cited by other articles:

				A. Fingerhut, S. Reutrakul, S. D. Knuedeler, L. C. Moeller, C. Greenlee, S. Refetoff, and O. E. Janssen Partial Deficiency of Thyroxine-Binding Globulin-Allentown Is Due to a Mutation in the Signal Peptide J. Clin. Endocrinol. Metab., May 1, 2004; 89(5): 2477 - 2483. [Abstract] [Full Text] [PDF]

				S. Reutrakul, A. Dumitrescu, P. E. Macchia, G. W. Moll Jr., H. Vierhapper, and S. Refetoff Complete Thyroxine-Binding Globulin (TBG) Deficiency in Two Families without Mutations in Coding or Promoter Regions of the TBG Genes: In Vitro Demonstration of Exon Skipping J. Clin. Endocrinol. Metab., March 1, 2002; 87(3): 1045 - 1051. [Abstract] [Full Text] [PDF]

				S. Reutrakul, O. E. Janssen, and S. Refetoff Three Novel Mutations Causing Complete T4-Binding Globulin Deficiency J. Clin. Endocrinol. Metab., October 1, 2001; 86(10): 5039 - 5044. [Abstract] [Full Text] [PDF]