Genomic coordinate (human 11:68,312,447 LRP5).
Cytoband (human 11q13.2 LRP5).
Here I 🎁 present: “Osteoporosis Pseudoglioma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (LRP5)
INTRODUCTION
Osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder characterized by severe osteoporosis and visual disturbance from childhood. Juvenile onset of osteoporosis manifests as long-bone fractures, vertebral compression fractures, kyphoscoliosis, deformity of extremities, and short stature. Congenital or early-onset visual disturbances arise from ophthalmologic problems including retinal detachment and microphthalmia.
There is evidence that osteoporosis-pseudoglioma is caused by mutation in the Low-Density Lipoprotein Receptor-Related Protein-5 (LRP5) gene encoded on genomic coordinate 11:68,312,447 and cytoband 11q13.2 in humans.
