Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass.

ABSTRACT: Osteoporosis is the most common bone disease characterized by reduced bone mass and increased bone fragility. Genetic contribution is one of the main causes of primary osteoporosis; therefore, both genders are affected by this skeletal disorder. Nonetheless, osteoporosis in men has received little attention, thus being underestimated and undertreated. The aim of this study was to identify novel genetic variants in a cohort of 128 males with idiopathic low bone mass using a next-generation sequencing (NGS) panel including genes whose mutations could result in reduced bone mineral density (BMD). Genetic analysis detected in eleven patients ten rare heterozygous variants within the LRP5 gene, which were categorized as VUS (variant of uncertain significance), likely pathogenic and benig

SUBMITTER: Rocca MS 

PROVIDER: S-EPMC8509722 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature