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

Miura, Yukiko

doi:10.1210/jc.85.10.3687

Cited by 5 publications

(2 citation statements)

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“…In TBG-CD serum concentration for TBG is usually below 5 mg/L, while in TBG-PD it overlaps the normal concentration in heterozygote females. To date, about 45 mutations have been described to cause TGB deficiency, mostly in coding regions [5] , [6] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] ( Table 2 ) (recently reviewed by Pappa et al [31] ). There does not appear to be a “hot spot”; missense and nonsense mutations are scattered in coding regions and splice sites.…”

Section: Discussionmentioning

confidence: 99%

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

Soheilipour

Fazilaty

Jamshidi

et al. 2016

Molecular Genetics and Metabolism Reports

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BackgroundThyroxine-binding globulin (TBG) is the main transporter of thyroid hormones in human serum, encoded by the gene TBG (SERPINA7), located in long arm of X-chromosome (Xq21-q22). Deficiency of SERPINA7 (serum protease inhibitor, clade A [alpha-1 antiproteinase, antitrypsin], member 7) leads to inherited TBG deficiency. Several mutations have been reported in the coding and noncoding regions of SERPINA7 in association with TGB deficiency.MethodsAutomated chemiluminescence immunoassays were used to determine TSH, free and total T4 and T3 (fT4, TT4, TT3) and TBG. Direct DNA sequencing identified the mutation in SERPINA7.ResultsWe present a 3 and 4/12 year old boy, born premature, who was mismanaged as hypothyroidism before referral to our center, and was diagnosed with TBG deficiency at our center with a hemizygous substitution in exon 1, position c.347T > A, leading to replacement of isoleucine for arginine in position 96 (considering the first 20 amino acid signal peptide).ConclusionThis known mutation, reported as the first SERPINA7 mutation in Iran, emphasizes the point that endocrinologists should pay more attention to inherited TBG to prevent unnecessary treatment.

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Section: Discussionmentioning

confidence: 99%

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

Soheilipour

Fazilaty

Jamshidi

et al. 2016

Molecular Genetics and Metabolism Reports

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“…Among the known mutations associated with TBG-CD are 10 deletions. In 8 cases, a single nucleotide was deleted, leading to frameshifts and premature stops (p.T38fsX51 [14], p.P50fsX51 [5,15], p.V165fsX168 [16], p.D201fsX206 [17], p.L283fsX301 [18], p.A329fsX374 [18], p.352fsX374 [19], p.D28fsX51 [20]). An exception is TBG-CD-Neulsenburg, in which the deletion of 2 nucleotides led to a frame shift and elongation of the protein by 7 amino acids (p.L384fsX402 [21]).…”

Section: Discussionmentioning

confidence: 99%

Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine-Binding Globulin

et al. 2015

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Background: Thyroxine-binding globulin (TBG) is the main transport protein for T₄ in blood. Until now, 22 mutations leading to complete TBG deficiency (TBG-CD) have been reported. Objective: We report two mutations associated with TBG-CD found in patients from Andrews, S.C., USA (TBG-CD-Andrews), and Berlin, Germany (TBG-CD-Berlin). Methods: Automated chemiluminescence immunoassays were used for the determination of TSH, free and total T₄ and T₃ (fT₄, TT₄, TT₃) and TBG. Direct DNA sequencing was used to identify the TBG mutations in the propositi. Results: TBG-CD-Andrews was found in a 1-month-old boy who was euthyroid with normal TSH and fT₄, but reduced TT₄, indicating TBG deficiency. TBG was not detectable, confirming TBG-CD. No mutation in the coding region and the promoter of the TBG gene was found, but a single nucleotide substitution in intron 1 disrupts the donor splice site of exon 0 (IVS1+2T>C). Another mutation was found in an 11-year-old boy. He was also euthyroid with normal fT₄ and TSH. However, TT₄ and TT₃ were low, suggesting TBG-CD. Sequencing revealed a 79-nucleotide deletion, ranging from intron 3 into exon 3. Conclusion: We report two novel mutations of the TBG gene associated with TBG-CD. Whereas most TBG-CDs are caused by small deletions, in TBG-CD-Andrews the disruption of a donor splice site was detected, whilst in TBG-CD-Berlin the largest deletion in the Serpina7 gene to date was found.

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Two novel mutations in the gene encoding thyroxine‐binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan

Chiu

et al. 2003

Clinical Endocrinology

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

Cited by 5 publications

References 0 publications

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine-Binding Globulin

Two novel mutations in the gene encoding thyroxine‐binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan

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