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Article

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

Bone - 1 Sept 2006

Cheung W M W, Jin L Y, Smith D K, Cheung P T, Kwan E Y W, Low L, Kung A W C

Abstract excerpt

Osteoporosis pseudoglioma syndrome (OPPG) is an autosomal recessive disorder due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Here, we report two novel missense mutations found in a southern Chinese family of a non-consanguineous marriage. Three out of four children had blindness, low bone mineral density (BMD) and multiple fractures in their childhood. Genotyping by DNA...

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Source

Identifiers

PMID: 16679074
DOI: 10.1016/j.bone.2006.02.069

Genes

LRP5
EGF
LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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