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Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

Anne De Paepe UGent, Lieve Nuytinck UGent, Marc Raes and Jean-Pierre Fryns (1997) HUMAN GENETICS. 99(4). p.478-483
abstract
We report two sibs with severe, progressively deforming osteogenesis imperfecta (OI) and homozygosity by descent for a glycine 751 to serine substitution in the alpha 2(I) collagen chain due to a G to A transition in the COL1A2 gene. The parents, who were first cousins, and two elder sibs were heterozygous for the mutation and presented mild clinical manifestations of OI. Collagen studies on cultured fibroblasts from one of the probands and from the father showed that cells from the homozygote produced only mutant, unstable collagen I, whereas cells from the heterozygote produced both normal and mutant collagen I. This family represents an exceptional example of autosomal recessive OI, caused by homozygosity for a missense mutation in collagen I.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
PROTEINS, I PROCOLLAGEN, CHAINS, AFRICA, GENES, DNA
journal title
HUMAN GENETICS
Hum. Genet.
volume
99
issue
4
pages
478 - 483
Web of Science type
Article
ISSN
0340-6717
DOI
10.1007/s004390050392
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
271071
handle
http://hdl.handle.net/1854/LU-271071
date created
2004-05-24 13:32:00
date last changed
2016-12-19 15:41:53
@article{271071,
  abstract     = {We report two sibs with severe, progressively deforming osteogenesis imperfecta (OI) and homozygosity by descent for a glycine 751 to serine substitution in the alpha 2(I) collagen chain due to a G to A transition in the COL1A2 gene. The parents, who were first cousins, and two elder sibs were heterozygous for the mutation and presented mild clinical manifestations of OI. Collagen studies on cultured fibroblasts from one of the probands and from the father showed that cells from the homozygote produced only mutant, unstable collagen I, whereas cells from the heterozygote produced both normal and mutant collagen I. This family represents an exceptional example of autosomal recessive OI, caused by homozygosity for a missense mutation in collagen I.},
  author       = {De Paepe, Anne and Nuytinck, Lieve and Raes, Marc and Fryns, Jean-Pierre},
  issn         = {0340-6717},
  journal      = {HUMAN GENETICS},
  keyword      = {PROTEINS,I PROCOLLAGEN,CHAINS,AFRICA,GENES,DNA},
  language     = {eng},
  number       = {4},
  pages        = {478--483},
  title        = {Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes},
  url          = {http://dx.doi.org/10.1007/s004390050392},
  volume       = {99},
  year         = {1997},
}

Chicago
De Paepe, Anne, Lieve Nuytinck, Marc Raes, and Jean-Pierre Fryns. 1997. “Homozygosity by Descent for a COL1A2 Mutation in Two Sibs with Severe Osteogenesis Imperfecta and Mild Clinical Expression in the Heterozygotes.” Human Genetics 99 (4): 478–483.
APA
De Paepe, Anne, Nuytinck, L., Raes, M., & Fryns, J.-P. (1997). Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. HUMAN GENETICS, 99(4), 478–483.
Vancouver
1.
De Paepe A, Nuytinck L, Raes M, Fryns J-P. Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. HUMAN GENETICS. 1997;99(4):478–83.
MLA
De Paepe, Anne, Lieve Nuytinck, Marc Raes, et al. “Homozygosity by Descent for a COL1A2 Mutation in Two Sibs with Severe Osteogenesis Imperfecta and Mild Clinical Expression in the Heterozygotes.” HUMAN GENETICS 99.4 (1997): 478–483. Print.