Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.
BACKGROUND
The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12.


OBJECTIVE
To measure bone density in two siblings with the OPPG syndrome as well as in their family members (parents and siblings).


METHODS
Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (> 95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry.


RESULTS
The studies revealed osteoporotic changes both in the patients and the carriers.


CONCLUSIONS
The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.
Lev
Dorit
D
Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel. dorlev@post.tau.ac.il
Binson
Inga
I
Foldes
A Joseph
AJ
Watemberg
Nathan
N
Lerman-Sagie
Tally
T
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D015502:Absorptiometry, Photon; D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000235:genetics*; D015519:Bone Density; D016022:Case-Control Studies; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D005542:Forearm / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D026502:LDL-Receptor Related Proteins; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008159:Lumbar Vertebrae / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D010024:Osteoporosis / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors; D012640:Seizures / Q000235:genetics*; D013577:Syndrome; D014416:Tunisia
D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011973:Receptors, LDL