The team led by Frederick S. Kaplan (Philadelphia, USA), a specialist in fibrodysplasia ossificans progressiva, reports the case of a 54-year-old man with a history of multiple heterotopic ossification of the left lower limb.
- Exome sequencing of his germ cells identified two variants of uncertain significance (VUS) in the PDLIM-7 gene, which encodes the LIM mineralization protein 1 (LMP-1).
- LMP-1 is an intracellular protein involved in bone morphogenetic protein (BMP) signalling and ossification.
- Functional studies of these SUVs in different cell models show that they increase bone mineralisation.
In the absence of in vivo evidence, further observations of LMP-1-related heterotopic ossifications are required to confirm the causality of these abnormalities in their occurrence.
