A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

Özet

Osteopoikilosis (OPK) is a rare, benign condition characterized byosteosclerotic foci that occur in the epiphyses and metaphyses of long bones,wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy andhis mother incidentally found to have sclerotic lesions on X-ray. Both ofthem were asymptomatic and the bone scan of the boy ruled out osteoblasticmetastases. We have shown that the boy and his mother have a previouslyunknown pathogenic variant of the LEMD3 gene, supporting the diagnosis ofosteopoikilosis.