Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.

ABSTRACT:

Context

Many different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs).

Objective

We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms.

Methods

Four clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men younger than 55 years with a bone mineral density (BMD) Z-score < -2.0 and/or pathological fractures. After exclusion of secondary causes or unequivocal clinical/biochemical hallmarks of monogenic LBMDs, all participants were genotyped by targeted next-generation sequencing.

Results

In total, 20.8% of the participants carried rare disease-causing variants (DCV

SUBMITTER: Oheim R 

PROVIDER: S-EPMC9202726 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature