scholarly journals Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV

1997 ◽  
Vol 61 (6) ◽  
pp. 1276-1286 ◽  
Author(s):  
Ulrike Schwarze ◽  
Jayne A. Goldstein ◽  
Peter H. Byers
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Donor Splice ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Marked Preference ◽  
Splicing Defects ◽  
Danlos Syndrome

scholarly journals A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

1993 ◽  
Vol 30 (5) ◽  
pp. 376-380 ◽  
Author(s):  
J Lloyd ◽  
P Narcisi ◽  
A Richards ◽  
F M Pope
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Donor Splice ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1990 ◽  
Vol 265 (28) ◽  
pp. 17070-17077 ◽  
Author(s):  
W G Cole ◽  
A A Chiodo ◽  
S R Lamande ◽  
R Janeczko ◽  
F Ramirez ◽  
...  
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Base Substitution ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
Type Iv ◽  
Type Iii Procollagen ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV

1994 ◽  
Vol 3 (10) ◽  
pp. 1901-1902 ◽  
Author(s):  
Allan J. Richards ◽  
Paolo Narcisi ◽  
Carole Ferguson ◽  
Jan M. Cobben ◽  
F.Michael Pope
Keyword(s):  
Splice Site ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Donor Splice ◽  
Type Iv ◽  
Danlos Syndrome ◽  
New Mutations

scholarly journals Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix

1995 ◽  
Vol 311 (3) ◽  
pp. 939-943 ◽  
Author(s):  
A A Chiodo ◽  
D O Sillence ◽  
W G Cole ◽  
J F Bateman
Keyword(s):  
Extracellular Matrix ◽  
Triple Helix ◽  
Type Iii Collagen ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Collagen Molecules ◽  
Danlos Syndrome

A novel heterozygous mutation of the COL3A1 gene that encodes the alpha 1(III) chains of type III collagen was identified in a family with the acrogeric form of Ehlers-Danlos syndrome type IV (EDS-IV). Cultured dermal fibroblasts produced normal and shortened alpha 1(III) chains. The triple helix of the latter chain was shortened owing to a 33 amino acid deletion of Gly-184 to Pro-216. The corresponding region of cDNA lacked 99 base pairs from nucleotides 1051 to 1149. The deletions corresponded exactly to the normal sequence encoded by exon 17 of the COL3A1 gene. The proband was heterozygous for a T to G transversion at position +2 of intron 17, which resulted in skipping of exon 17. The splicing defect was not corrected by growing the fibroblasts at 33 degrees C and no other splicing variants were identified at 33 or 37 degrees C. The affected brother had the same mutation but his unaffected mother did not. Heterotrimeric type III collagen molecules containing normal and mutant chains were retained within the cell. The mutant homotrimeric molecules were modified and secreted normally and were thermally stable. These normal characteristics of the mutant homotrimers suggested that the loss of ten Gly-Xaa-Yaa triplets (where Gly-Xaa-Yaa is a repetitive amino acid triplet structure in which Xaa and Yaa are other amino acids, proline and hydroxyproline being more common in the Yaa position) did not adversely affect the formation and stability of the triple helix or the structural requirements for secretion. However, the mutant homotrimers were not incorporated into the extracellular matrix of an in vitro model of EDS-IV dermis. The EDS-IV phenotype in this family was probably due to a deficiency in the amount of normal type III collagen available for formation of the heterotypic collagen fibrils of the extracellular matrix. Intracellular and extracellular quality-control mechanisms prevented the incorporation of heterotrimeric and homotrimeric mutant type III collagen molecules into the cross-linked extracellular matrix.

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

1993 ◽  
Vol 46 (3) ◽  
pp. 278-283 ◽  
Author(s):  
Paolo Narcisi ◽  
Yuli Wu ◽  
Gerard Tromp ◽  
James J Earley ◽  
Allan J. Richards ◽  
...  
Keyword(s):  
Glutamic Acid ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Single Base ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene

2001 ◽  
Vol 144 (5) ◽  
pp. 1086-1087 ◽  
Author(s):  
T. Jansen ◽  
A. De Paepe ◽  
L. Nuytinck ◽  
P. Altmeyer
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene

2010 ◽  
Vol 49 (16) ◽  
pp. 1797-1800 ◽  
Author(s):  
Rinako Sadakata ◽  
Atsushi Hatamochi ◽  
Keiji Kodama ◽  
Akiko Kaga ◽  
Takefumi Yamaguchi ◽  
...  
Keyword(s):  
Point Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome

scholarly journals Mutations in the COL3A1 Gene Result in the Ehlers–Danlos Syndrome Type IV and Alterations in the Size and Distribution of the Major Collagen Fibrils of the Dermis

1997 ◽  
Vol 108 (3) ◽  
pp. 241-247 ◽  
Author(s):  
Lynne T. Smith ◽  
Ulrike Schwarze ◽  
Jayne Goldstein ◽  
Peter H. Byers
Keyword(s):  
Collagen Fibrils ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Danlos Syndrome

A Splice-Site Mutation that Induces Exon Skipping and Reduction in Lysyl Hydroxylase mRNA Levels but Does Not Create a Nonsense Codon in Ehlers-Danlos Syndrome Type VI

1998 ◽  
Vol 17 (2) ◽  
pp. 117-123 ◽  
Author(s):  
L. PAJUNEN ◽  
M. SUOKAS ◽  
T. HAUTALA ◽  
S. KELLOKUMPU ◽  
B. TEBBE ◽  
...  
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Splice Site Mutation ◽  
Mrna Levels ◽  
Syndrome Type ◽  
Site Mutation ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Nonsense Codon ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

2001 ◽  
Vol 19 (1) ◽  
pp. 195-198 ◽  
Author(s):  
A. Watanabe ◽  
Y. Kawabata ◽  
O. Okada ◽  
N. Tanabe ◽  
H. Kimura ◽  
...  
Keyword(s):  
Point Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Danlos Syndrome
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