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

Elmaoğulları S., Yıldız A. E., DEMİR S., GÜRKAN H., Uçaktürk S. A.

Turkish Journal of Pediatrics, cilt.61, sa.4, ss.594-598, 2019 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.24953/turkjped.2019.04.018
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.594-598
  • Anahtar Kelimeler: LEMD3, Osteopoikilosis, Pathogenic variation
  • Trakya Üniversitesi Adresli: Evet

Özet

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.