scholarly journals Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation

1998 ◽  
Vol 273 (8) ◽  
pp. 4761-4768 ◽  
Author(s):  
Mary Ann Weis ◽  
Douglas J. Wilkin ◽  
Hyon J. Kim ◽  
William R. Wilcox ◽  
Ralph S. Lachman ◽  
...  
1994 ◽  
Vol 14 (5) ◽  
pp. 390 ◽  
Author(s):  
D.J. Wilkin ◽  
R. Bogaert ◽  
W.R. Wilcox ◽  
D.L. Rimoin ◽  
D.R. Eyre ◽  
...  

1988 ◽  
Vol 7 (1-2) ◽  
pp. 95-98 ◽  
Author(s):  
Robin Poole ◽  
L. Rosenberg ◽  
L. Murray ◽  
D. Rimoin

1994 ◽  
Vol 3 (11) ◽  
pp. 1999-2003 ◽  
Author(s):  
Douglas J.WIIkln ◽  
Ray Bogaert ◽  
Ralph S. Lachman ◽  
David L.Rimoin ◽  
David R. Eyre ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1395
Author(s):  
Valentina Bruni ◽  
Cristina Barbara Spoleti ◽  
Andrea La Barbera ◽  
Vincenzo Dattilo ◽  
Emma Colao ◽  
...  

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we reported a case of a novel splicing variant of COL2A1 in a fetus with ACG2. An NGS analysis of fetal DNA revealed a heterozygous variant c.1267-2_1269del located in intron 20/exon 21. The variant occurred de novo since it was not detected in DNA from the blood samples of parents. We generated an appropriate minigene construct to study the effect of the variant detected. The minigene expression resulted in the synthesis of a COL2A1 messenger RNA lacking exon 21, which generated a predicted in-frame deleted protein. Usually, in-frame deletion variants of COL2A1 cause a phenotype such as Kniest dysplasia, which is milder than ACG2. Therefore, we propose that the size and position of an in-frame deletion in COL2A1 may be relevant in determining the phenotype of skeletal dysplasia.


Author(s):  
Douglas J. Wilkin ◽  
Andrew S. Artz ◽  
Sarah South ◽  
Ralph S. Lachman ◽  
David L. Rimoin ◽  
...  

1996 ◽  
Vol 09 (02) ◽  
pp. 60-5 ◽  
Author(s):  
N. Hope ◽  
P. Ghosh ◽  
S. Collier

SummaryThe aim of this study was to determine the effects of intra-articular hyaluronic acid on meniscal healing. Circular defects, 1.0 mm in diameter, were made in the anterior third of the medial meniscus in rabbits. In one joint, 0.4 ml hyaluronic acid (Healon®) was instilled, and in the contralateral (control) joint, 0.4 ml Ringer’s saline. Four rabbits were killed after four, eight and 12 weeks and the menisci examined histologically. By eight weeks most of the lesions had healed by filling with hyaline-like cartilage. Healing was not improved by hyaluronic acid treatment. The repair tissue stained strongly with alcian blue, and the presence of type II collagen, keratan sulphate, and chondroitin sulphate was demonstrated by immunohistochemical localisation. In contrast to the circular defects, longitudinal incisions made in the medial menisci of a further six rabbits did not show any healing after 12 weeks, indicating that the shape of the lesion largely determined the potential for healing.The effect of hyaluronic acid on meniscal healing was tested in a rabbit model. With one millimeter circular lesions in the medial meniscus, healing by filling with hyalinelike cartilage was not significantly affected by the application of hyaluronic acid intra-articularly at the time of surgery, compared to saline controls, as assessed histologically four, eight and 12 weeks after the operation.


Sign in / Sign up

Export Citation Format

Share Document