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Joint Bone Spine
Volume 77, n° 2
pages 151-153 (mars 2010)
Doi : 10.1016/j.jbspin.2009.11.013
accepted : 5 November 2009
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome

Alice Marques-Pinheiro a, Régis Levasseur b, c, Catherine Cormier d, Jessica Bonneau a, Catherine Boileau a, e, Mathilde Varret a, Marianne Abifadel a, f, Yannick Allanore a, , d
a Inserm U781, Paris Descartes University, Necker Hospital, Paris, France 
b Inserm, U922 – LHEA, Faculty of Medicine, Angers University, Angers, France 
c Rheumatology department, Angers Teaching Hospital, 49933 Angers cedex 9, France 
d Paris Descartes University, Rheumatology A department, Cochin Hospital, APHP, Paris, France 
e U.V.S.Q University, Biochemistry, hormonology and molecular genetics department, Ambroise Paré Hospital, AP–HP, Boulogne, France 
f Faculty of Pharmacy, Saint-Joseph University, Beirut, Lebanon 

Corresponding author.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterised by severe juvenile-onset osteoporosis and congenital or early-onset blindness. This serious illness is due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) that is a major actor in pathways involved in bone remodelling. Here, we report a novel frameshift mutation identified in a 22 year-old Tunisian boy of a consanguineous family. This patient had low bone mineral density (BMD), experienced multiple fractures during childhood and suffered ocular alterations with blindness. Direct DNA sequencing showed a homozygous 5 base pair insertion in exon 5 of the LRP5 gene. This new mutation is located in the first EGF-like domain and gives rise to a truncated protein of 384 amino acids. The functional significance of this mutation clearly indicates a loss-of-function mutation of the LRP5 gene leading to the observed OPPG phenotype. Rheumatologists must be aware of LRP5 gene that in addition to being a major gene in the mendelian disease that is OPPG syndrome seems to be involved in osteoporosis in the general population through some of its polymorphisms.

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Keywords : Osteoporosis-pseudoglioma syndrome, Low-density lipoprotein receptor-related protein 5, Osteoporosis

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