Journal
CLINICAL GENETICS
Volume 85, Issue 6, Pages 562-567Publisher
WILEY
DOI: 10.1111/cge.12224
Keywords
contractures; ophthalmoplegia; camptodactyly; arthrogryposis
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Funding
- Al-Habtoor Dubai-Harvard Foundation
- Manton Center for Orphan Disease Research
- National Institute of Health [R01EY12498]
- MRRC [P30 HD018655]
- Pamukkale University Scientific Research Unit [2006 TPF 002]
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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.
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