Expanding the phenotypic spectrum of ECEL1‐related congenital contracture syndromes. (19th July 2013)

• Record Type: Journal Article
• Authors: Shaaban, S.; Duzcan, F.; Yildirim, C.; Chan, W.‐M.; Andrews, C.; Akarsu, N.A.; Engle, E.C.
• Is Part Of: Clinical genetics. Volume 85:Number 6(2014:Jun.)
• Page Start: 562
• Page End: 567
• Publication Date: 2013-07-19
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12224
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12224-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12224-para-0001">Using a combination of homozygosity mapping and whole‐exome sequencing (WES), we identified a novel missense c.1819G&gt;A mutation (G607S) in the endothelin‐converting enzyme‐like 1 (<italic>ECEL1</italic>) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. <italic>ECEL1</italic> mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of <italic>ECEL1</italic>‐associated congenital contracture syndromes.</p> </abstract>