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

作者：Yaoqin Gong, Miikka Vikkula, Laurence Myriam Boon, J Liu, Peter Beighton, Raj Ramesar, Leena Peltonen, Hannu Somer, Takuo Hirose, Bruno Dallapiccola, Anne De Paepe, Walter J. Swoboda, Bernard Zabel, Andrea Superti‐Furga, Beat Steinmann, Han G. Brunner, Anneke Jans, Richard G. Boles, William N. Adkins, M. J. van den Boogaard, Bjorn Reino Olsen, Matthew L. Warman · 发表于：PubMed · 年份：1996 · 被引用次数：246 · 研究领域：Bone Metabolism and Diseases、Connective tissue disorders research、Bone and Dental Protein Studies

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.