Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

Abstract excerpt

Juvenile osteoporosis (JO) is characterized by bone fragility during development, low bone mass and absence of extraskeletal features. Heterozygous loss-of-function mutations in LRP5 have been found in a few patients, but bone tissue and bone material abnormalities associated with such mutations have not been determined. Here we report on a 6-year-old boy who presented with a history of seven low-energy long-bone...

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