title: Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
abstract: 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.
authors.affiliation: Department of Genetics, Case Western Reserve University School of Medicine, Cleveland OH 44106, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Gong
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
authors.forename: L
authors.initials: L
authors.lastname: Boon
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: H
authors.initials: H
authors.lastname: Somer
authors.forename: T
authors.initials: T
authors.lastname: Hirose
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: W
authors.initials: W
authors.lastname: Swoboda
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: A
authors.initials: A
authors.lastname: Jans
authors.forename: R G
authors.initials: RG
authors.lastname: Boles
authors.forename: W
authors.initials: W
authors.lastname: Adkins
authors.forename: M J
authors.initials: MJ
authors.lastname: van den Boogaard
authors.forename: B R
authors.initials: BR
authors.lastname: Olsen
authors.forename: M L
authors.initials: ML
authors.lastname: Warman
mesh_terms: D000483:Alleles; D001766:Blindness / Q000150:complications / Q000151:congenital / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005134:Eye Neoplasms / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D005910:Glioma / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D004247:DNA