PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

ABSTRACT: Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis.

Introduction

The study aimed to determine the role of pathogenic PLS3 variants in children's bone fragility and to elucidate the associated phenotypic features.

Methods

Two cohorts of children with bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Cohort I comprised 31 patients with childhood-onset primary osteoporosis of unknown etiology. Cohort II comprised 64 childr

SUBMITTER: Kampe AJ 

PROVIDER: S-EPMC5624974 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature