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

2015 ◽  
Vol 4 (Suppl. 1) ◽  
pp. 108-112 ◽  
Author(s):  
Lars C. Moeller ◽  
Yaw Appiagyei-Dankah ◽  
Birgit Köhler ◽  
Heike Biebermann ◽  
Onno E. Janssen ◽  
...  
Keyword(s):  
Splice Site ◽  
Donor Splice Site ◽  
Coding Region ◽  
Novel Mutations ◽  
Single Nucleotide ◽  
Thyroxine Binding Globulin ◽  
Direct Dna Sequencing ◽  
Donor Splice ◽  
Intron 1

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.

scholarly journals Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

1994 ◽  
Vol 3 (2) ◽  
pp. 112-120 ◽  
Author(s):  
Amelia Morrone ◽  
Hans Morreau ◽  
Xiao Yan Zhou ◽  
Enrico Zammarchi ◽  
Wim J. Kleijer ◽  
...  
Keyword(s):  
Splice Site ◽  
Donor Splice Site ◽  
Gm1 Gangliosidosis ◽  
Donor Splice ◽  
Intron 1

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

2012 ◽  
Vol 348 (1) ◽  
pp. 313-321 ◽  
Author(s):  
Héctor M. Targovnik ◽  
Thomas Edouard ◽  
Viviana Varela ◽  
Maithé Tauber ◽  
Cintia E. Citterio ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Splice Site ◽  
Donor Splice Site ◽  
Novel Mutations ◽  
Donor Splice ◽  
Thyroglobulin Gene ◽  
Exon 19

scholarly journals Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

1999 ◽  
Vol 107 (4) ◽  
pp. 766-771 ◽  
Author(s):  
Richard D. Bagnall ◽  
Naushin H. Waseem ◽  
Peter M. Green ◽  
Brian Colvin ◽  
Christine Lee ◽  
...  
Keyword(s):  
Factor Viii ◽  
Splice Site ◽  
Donor Splice Site ◽  
Haemophilia A ◽  
Factor Viii Gene ◽  
Cryptic Exon ◽  
Donor Splice ◽  
Intron 1

A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease

2005 ◽  
Vol 35 (3) ◽  
pp. 365-369 ◽  
Author(s):  
Martin de Boer ◽  
Dominik Hartl ◽  
Uwe Wintergerst ◽  
Bernd H. Belohradsky ◽  
Dirk Roos
Keyword(s):  
Chronic Granulomatous Disease ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Granulomatous Disease ◽  
Site Mutation ◽  
Donor Splice ◽  
Intron 1

The coding region of far-red fluorescent protein Katushka contains a strong donor splice site

2011 ◽  
Vol 37 (3) ◽  
pp. 380-382 ◽  
Author(s):  
N. G. Gurskaya ◽  
D. B. Staroverov ◽  
A. F. Fradkov ◽  
K. A. Lukyanov
Keyword(s):  
Splice Site ◽  
Fluorescent Protein ◽  
Donor Splice Site ◽  
Red Fluorescent Protein ◽  
Coding Region ◽  
Donor Splice

Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene

1994 ◽  
Vol 72 (01) ◽  
pp. 065-069 ◽  
Author(s):  
J M Soria ◽  
D Brito ◽  
J Barceló ◽  
J Fontcuberta ◽  
L Botero ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gene Product ◽  
Splice Site ◽  
Protein C ◽  
Purpura Fulminans ◽  
Single Strand Conformation Polymorphism ◽  
Donor Splice Site ◽  
Protein C Deficiency ◽  
Donor Splice ◽  
Newborn Child

SummarySingle strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q → H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutation, seen in the homozygous state in the child and in the heterozygous state in her mother, was characterized and found to be a G to C nucleotide substitution at the -1 position of the donor splice site of intron 7 of the protein C gene, which changes histidine 184 for glutamine (184, Q → H). According to analysis of the normal and mutated sequences, this mutation should also abolish the function of the donor splice site of intron 7 of the protein C gene. Since such a mutation is compatible with the absence of gene product in plasma and since DNA sequencing of all protein C gene exons in this patient did not reveal any other mutation, we postulate that mutation 184, Q → H results in the absence of protein C gene product in plasma, which could be the cause of the severe phenotype observed in this patient.

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