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, Siddharth; Cain, Stuart; Carim, Sabrya; Daly, Sarah; Urquhart, Jill; Erdem, Guenhan; Harris, Jade; Bottomley, Michelle; Donnai, Dian; Kerr, Bronwyn; Kingston, Helen; Superti-Furga, Andreas; Unger, Sheila; Ennis, Holly; Worthington, Jane; Herrick, Ariane; Merry, Catherine; Yue, Wyatt; Kielty, Cay; Newman, William

doi:10.1136/annrheumdis-2013-204309

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 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 74 Issue: 6
Publication Date: 2015
Doi Number: 10.1136/annrheumdis-2013-204309
Title of Journal : ANNALS OF THE RHEUMATIC DISEASES
Page Numbers: pp.1249-1256

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.