Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

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

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

  • Publication Type: Article / Article
  • Volume: 85 Issue: 6
  • Publication Date: 2014
  • Doi Number: 10.1111/cge.12224
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.562-567
  • Hacettepe University Affiliated: Yes

Abstract

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.