A case of non-β-globin gene linked β thalassaemia in a Dutch family with two additional α-gene defects: the common −α3·7 deletion and the rare IVS1-116 (A → G) acceptor splice site mutation

1998 ◽  
Vol 103 (2) ◽  
pp. 370-376 ◽  
Author(s):  
Giordano ◽  
Harteveld ◽  
Haak ◽  
Batelaan ◽  
Van Delft ◽  
...  
Keyword(s):  
Splice Site ◽  
Globin Gene ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site ◽  
The Common ◽  
Gene Defects ◽  
Dutch Family

An IVS1-116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

1996 ◽  
Vol 95 (3) ◽  
pp. 461-466 ◽  
Author(s):  
C. L. Harteveld ◽  
J. G. A. M. Heister ◽  
P. C. Giordano ◽  
D. Batelaan ◽  
P. v. Delft ◽  
...  
Keyword(s):  
Splice Site ◽  
Globin Gene ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site

scholarly journals A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis

Blood ◽  
1993 ◽  
Vol 81 (10) ◽  
pp. 2791-2798 ◽  
Author(s):  
N Alloisio ◽  
R Wilmotte ◽  
J Marechal ◽  
P Texier ◽  
L Denoroy ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Low Grade ◽  
Site Mutation ◽  
Acceptor Splice Site ◽  
Genetic Lesion ◽  
Major Disadvantage ◽  
Internal Position ◽  
Alpha Spectrin ◽  
Self Association

Abstract Spectrin Oran (alpha II/21) has been reported previously as a variant of the alpha II domain. Its expression level is low (10% of total spectrin) in heterozygotes denoting a major disadvantage of the mutated alpha-chain dimer or tetramer with respect to their normal counterparts. Spectrin Oran is associated with symptomatic elliptocytosis in the homozygous state. A 1-minute digestion time allowed to perceive a fast trypsin cleavage (not existing normally) after Arg 890 (helix 3 of repeating segment alpha 9). The responsible change was the lack of amino acids 822 to 862 (helix 2 of repeating segment alpha 8). Such a situation fits with the phasing of spectrin according to which mutated helix 2 and distorted helix 3 are adjacent to one another. The internal position of the structural change accounts for the slight self-association defect. The ultimate genetic lesion was a G to A substitution (intronic position-1) in the acceptor splice site of intron 17 resulting in skipping of exon 18. The substitution also created an acceptor splice site 1 base downstream, but the latter was used at a low grade.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

2015 ◽  
Vol 25 (9) ◽  
pp. 719-724 ◽  
Author(s):  
Olimpia Musumeci ◽  
Andrea Thieme ◽  
Kristl G. Claeys ◽  
Stephan Wenninger ◽  
Rudolf A. Kley ◽  
...  
Keyword(s):  
Splice Site ◽  
Pompe Disease ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
The Common ◽  
C 32 ◽  
Gaa Gene

An acceptor splice site mutation inHOXD13 results in variable hand, but consistent foot malformations

2003 ◽  
Vol 121A (1) ◽  
pp. 69-74 ◽  
Author(s):  
Shih-hsin Kan ◽  
David Johnson ◽  
Henk Giele ◽  
Andrew O.M. Wilkie
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site
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