Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Shaaban S., Duzcan F., Yildirim C., Chan W. -. , Andrews C., Akarsu N. A. , ...More

CLINICAL GENETICS, vol.85, no.6, pp.562-567, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 85 Issue: 6
  • Publication Date: 2014
  • Doi Number: 10.1111/cge.12224
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.562-567


Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes.