Shaaban S.,Fb Kirby Neurobiology Center |
Shaaban S.,Boston Childrens Hospital |
Shaaban S.,Harvard University |
Yildirim C.,Pamukkale University |
And 10 more authors.
Clinical Genetics | Year: 2014
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. © 2013 John Wiley & Sons A/S.