The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 4
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis
Selin Elmaoğulları 1 ,Adelet Elçin Yıldız 2 ,Selma Demir 3 ,Hakan Gürkan 3 ,Seyit Ahmet Uçaktürk 1
1 Departments of Pediatric Endocrinology, Ankara Children’s Hematology and Oncology Training and Research Hospital, Ankara, Turkey
2 Departments of Radiology, Ankara Children’s Hematology and Oncology Training and Research Hospital, Ankara
3 Department of Molecular Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
DOI : 10.24953/turkjped.2019.04.018 Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598.

Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis. Keywords : osteopoikilosis, LEMD3, pathogenic variation

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