Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due to <i>PLS3</i> genetic variants.

ABSTRACT: X-linked osteoporosis, caused by plastin 3 (PLS3) genetic variants, is a rare disease, characterized by low BMD and early-onset fractures, primarily affecting men. Our aim was to further elucidate the phenotypic characteristics, including sex-differences and genotype-phenotype analysis, in individuals with PLS3 variants. Our cohort comprises of 28 patients from 11 families, 18 men and 10 women, with a different PLS3 variant in each family. Demographic, clinical, and genetic features, imaging and laboratory tests, and treatment details were retrospectively reviewed. Men, (median age 47.0 y), demonstrated low Z-scores of the lumbar spine (-2.8 ± 1.7) and femoral neck (-1.7, IQR: -2.9-0.8). Most women (median age 49.5 y) had normal BMD, two had osteoporosis and one osteop

SUBMITTER: Zervou Z 

PROVIDER: S-EPMC12063993 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature