title: Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes.
abstract: We report clinical findings, bone mineral density (BMD) and bone biopsy data in ten children with features of classic idiopathic juvenile osteoporosis (IJO). We also screened the patients for mutations in LRP5 and LRP6. We found low BMD in the lumbar spine, the hip and distal radius. In the spine and distal radius, the reduction in BMD was more marked in the trabecular compartment. Biopsy confirmed that the trabecular compartment is more severely involved with reduction in bone formation and increase in bone resorption. No mutations in LRP5 and LRP6 could be identified. IJO is likely to be a heterogeneous bone disorder, and next-generation genomic sequencing studies may help reveal causative genes.
authors.affiliation: Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy, robertofranceschi@yahoo.it.
authors.forename: Roberto
authors.initials: R
authors.lastname: Franceschi
authors.forename: Monica
authors.initials: M
authors.lastname: Vincenzi
authors.forename: Marta
authors.initials: M
authors.lastname: Camilot
authors.forename: Franco
authors.initials: F
authors.lastname: Antoniazzi
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Freemont
authors.forename: Judith E
authors.initials: JE
authors.lastname: Adams
authors.forename: Christine
authors.initials: C
authors.lastname: Laine
authors.forename: Outi
authors.initials: O
authors.lastname: Makitie
authors.forename: M Zulf
authors.initials: MZ
authors.lastname: Mughal
mesh_terms: D000293:Adolescent; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics*; D060488:Low Density Lipoprotein Receptor-Related Protein-6 / Q000235:genetics*; D008297:Male; D009154:Mutation; D010024:Osteoporosis / Q000235:genetics* / Q000473:pathology*
chemical_list: C555482:LRP5 protein, human; C555475:LRP6 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D060488:Low Density Lipoprotein Receptor-Related Protein-6