Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSH -Subunit Gene

2002 ◽  
Vol 87 (1) ◽  
pp. 336-339 ◽  
Author(s):  
J. Pohlenz
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Subunit Gene ◽  
Site Mutation ◽  
Donor Splice ◽  
Secondary Hypothyroidism

scholarly journals Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSHβ-Subunit Gene

2002 ◽  
Vol 87 (1) ◽  
pp. 336-339 ◽  
Author(s):  
Joachim Pohlenz ◽  
Alexandra Dumitrescu ◽  
Ulrich Aumann ◽  
Gerhard Koch ◽  
Ralph Melchior ◽  
...  
Keyword(s):  
Splice Site ◽  
White Blood Cells ◽  
Donor Splice Site ◽  
Gene Transcript ◽  
Subunit Gene ◽  
Site Mutation ◽  
Exon 2 ◽  
Donor Splice ◽  
Secondary Hypothyroidism ◽  
Tsh Deficiency

Isolated TSH deficiency as a cause for congenital hypothyroidism is relatively uncommon. Even more rare is the identification of mutations in the TSHβ gene, only four of which have been identified. We here report a 4-month-old girl with isolated TSH deficiency born to consanguineous parents. Sequencing of the TSHβ-subunit gene revealed a homozygous G to A transition at position +5 of the donor splice site of intron 2. TSHβ gene transcript could not be obtained from fibroblasts or white blood cells by illegitimate amplification. Thus, to investigate further the mechanism leading to TSH deficiency in this patient, we used an in vitro exon-trapping system. The mutation at position +5 of the donor splicing site produced a skip of exon 2. The putative product of translation from a downstream start site is expected to yield a severely truncated peptide of 25 amino acids. Surprisingly, a missense substitution affecting the 14th amino acid of the signal peptide (SigP A14T) was found in one allele of the mother and brother. SigP 14T is polymorphic with a frequency of 1.8% and has no functional consequence.

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis

A G+3-to-T Donor Splice Site Mutation Leads to Skipping of Exon 50 in Von Willebrand Factor mRNA

Genomics ◽  
1994 ◽  
Vol 24 (1) ◽  
pp. 190-191 ◽  
Author(s):  
G. Mertes ◽  
M. Ludwig ◽  
B. Finkelnburg ◽  
M. Krawczak ◽  
R. Schwaab ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome

2010 ◽  
Vol 90 (1) ◽  
pp. 95-96 ◽  
Author(s):  
B Tüysüz ◽  
D Ojalvo ◽  
C Mat ◽  
G Zambruno ◽  
C Covaciu ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Netherton Syndrome ◽  
Donor Splice

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Genomics ◽  
1988 ◽  
Vol 2 (1) ◽  
pp. 32-36 ◽  
Author(s):  
Hagop Youssoufian ◽  
Haig H. Kazazian ◽  
Achyut Patel ◽  
Sophia Aronis ◽  
George Tsiftis ◽  
...  
Keyword(s):  
Factor Viii ◽  
Splice Site ◽  
Hemophilia A ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Factor Viii Gene ◽  
Site Mutation ◽  
Donor Splice ◽  
Intron 4

Gonadal Mosaicism of Frasier Syndrome in 3 Chinese Siblings with Donor Splice Site Mutation of Wilms’ Tumour Gene

Nephron ◽  
2002 ◽  
Vol 91 (3) ◽  
pp. 526-529 ◽  
Author(s):  
Wai Leung Chak ◽  
Ka Fai To ◽  
Yuk Lun Cheng ◽  
Kan Ming Tsui ◽  
Kwok Wai Lo ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Wilms Tumour ◽  
Frasier Syndrome ◽  
Site Mutation ◽  
Donor Splice ◽  
Gonadal Mosaicism
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