Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Détails

ID Serval
serval:BIB_077A0D50054F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Périodique
American Journal of Human Genetics
Auteur(s)
Gong Y., Vikkula M., Boon L., Liu J., Beighton P., Ramesar R., Peltonen L., Somer H., Hirose T., Dallapiccola B., De Paepe A., Swoboda W., Zabel B., Superti-Furga A., Steinmann B., Brunner H.G., Jans A., Boles R.G., Adkins W., van den Boogaard M.J., Olsen B.R., Warman M.L.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Statut éditorial
Publié
Date de publication
1996
Volume
59
Numéro
1
Pages
146-151
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. Publication Status: ppublish
Résumé
Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism is not known. Clinical, biochemical, and microscopic analyses suggest that OPS may be a disorder of matrix homeostasis rather than a disorder of matrix structure. Consequently, identification of the OPS gene and its protein product could provide insights regarding common osteoporotic conditions, such as postmenopausal and senile osteoporosis. As a first step toward determining the cause of OPS, we utilized a combination of traditional linkage analysis and homozygosity mapping to assign the OPS locus to chromosome region 11q12-13. Mapping was accomplished by analyzing 16 DNA samples (seven affected individuals) from three different consanguineous kindreds. Studies in 10 additional families narrowed the candidate region, supported locus homogeneity, and did not detect founder effects. The OPS locus maps to a 13-cM interval between D11S1298 and D11S971 and most likely lies in a 3-cM region between GSTP1 and D11S1296. At present, no strong candidate genes colocalize with OPS.
Mots-clé
Alleles, Blindness/complications, Blindness/congenital, Child, Chromosome Mapping, Chromosomes, Human, Pair 11/genetics, Consanguinity, DNA/genetics, Eye Neoplasms/complications, Eye Neoplasms/genetics, Female, Genes, Recessive, Genetic Linkage, Genetic Markers, Glioma/complications, Glioma/genetics, Humans, Infant, Newborn, Male, Osteoporosis/complications, Osteoporosis/genetics, Pedigree, Syndrome
Pubmed
Web of science
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
20/08/2019 13:29
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