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Wiley, Clinical Genetics, 6(85), p. 562-567, 2013

DOI: 10.1111/cge.12224

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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Journal article published in 2013 by Sherin Shaaban, Fusun Duzcan, Cem Yildirim, Wai-Man Chan, Caroline Andrews, Nurten A. Akarsu ORCID, Elizabeth C. Engle
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Using a combination of homozygosity mapping and whole-exome sequencing, we identified a novel missense c.1819G>A mutation (S607G) 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.