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

Turk J Pediatr. 2019;61(4):594-598. doi: 10.24953/turkjped.2019.04.018.

Abstract

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: LEMD3; osteopoikilosis; pathogenic variation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Autoantigens
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mothers*
  • Mutation*
  • Osteopoikilosis / diagnosis
  • Osteopoikilosis / genetics*
  • Osteopoikilosis / metabolism
  • Radiography

Substances

  • Autoantigens
  • DNA-Binding Proteins
  • LEMD3 protein, human
  • Membrane Proteins