Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Banka S., Cain S. A., Carim S., Daly S. B., Urquhart J. E., Erdem G., ...More

ANNALS OF THE RHEUMATIC DISEASES, vol.74, no.6, pp.1249-1256, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 74 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1136/annrheumdis-2013-204309
  • Journal Name: ANNALS OF THE RHEUMATIC DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1249-1256
  • Çanakkale Onsekiz Mart University Affiliated: No

Abstract

Objectives Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis.