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

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.

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

Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease

1998 ◽  
Vol 11 (6) ◽  
pp. 483-483 ◽  
Author(s):  
Takehiko Matsumura ◽  
Hitoshi Osaka ◽  
Naoya Sugiyama ◽  
Chiaki Kawanishi ◽  
Yasuko Maruyama ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site

scholarly journals Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

2016 ◽  
Vol 84 (2) ◽  
pp. 210-212 ◽  
Author(s):  
Chao-Kai Hsu ◽  
Lu Liu ◽  
Pelin K. Can ◽  
Emek Kocatürk ◽  
James R. McMillan ◽  
...  
Keyword(s):  
Splice Site ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site ◽  
Skin Fragility

scholarly journals A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Qinghong Lin ◽  
Lin Zheng ◽  
Zhengwei Shen ◽  
Liming Jie
Keyword(s):  
Splice Site ◽  
Genomic Dna ◽  
Family Members ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site ◽  
Blood Leukocytes ◽  
Indian Family ◽  
South Indian ◽  
Gene Functional Analysis

Objective. This study aims to clarify the association between keratoconus (KC) and potential pathogenic genetic variants in a three-generation South Indian family. Methods. In the present study, a three-generation KC family, which comprised 10 affected patients and nine unaffected individuals, was recruited. The family history and necessary ophthalmological exams, such as visual acuity and slit-lamp, were performed for all participants. Genomic DNA was extracted from peripheral blood leukocytes, and whole exome sequencing (WES) was performed using the genomic DNA of the proband (III:4) and two other family members (III:2, III:3). The acceptor-splice-site mutation was validated and verified using polymerase chain reaction (PCR) and Sanger sequencing. Gene functions and pathways associated with the identified mutations were subjected to in silico analysis. Results. A novel COL5A1 acceptor-splice-site mutation IVS50-4C > G was found in the 10 affected individuals in the three-generation KC family, but this was not found in any of the unaffected family members or unrelated healthy individuals. Gene functional analysis using the SpliceMan and ExonScan software predicted that the splice-site mutation was potentially associated with KC pathogenesis. This mutation might affect the assembly of the collagen triple helix. Conclusion. The present study confirmed the association between the COL5A1 gene and KC and identified a novel COL5A1 acceptor-splice-site mutation (IVS50-4C > G) in intron 50, which may affect the splicing of the adjacent exon 50.

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

1993 ◽  
Vol 92 (5) ◽  
pp. 506-508 ◽  
Author(s):  
Jos� Manuel Soria ◽  
Jordi Fontcuberta ◽  
Miguel Chill�n ◽  
Montserrat Borrell ◽  
Xavier Estivill ◽  
...  
Keyword(s):  
Splice Site ◽  
Protein C ◽  
Splice Site Mutation ◽  
Type I ◽  
Site Mutation ◽  
Protein C Deficiency ◽  
Acceptor Splice Site
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